Mendelism

Sapiens IAS
MENDELISM
MENDELISM
INTRODUCTION:
Gregor Johan Mendel conducted 2 experiments such as monohybrid cross & di –hybrid cross by
using pea – plants out of the experiments he came out with certain law of inheritance, which can
serve biological, medico- legal & socio economic functions.
EXPERIMENTS CONDUCTED BY MENDEL:
He conducted experiments monohybrid cross & di –hybrid cross. They are explained below:
A.) MONOHYBRID CROSS:
In one experiment Mendel crossed tall ht with dwarf varieties of garden – pea. The experiment is
given below:
TALL DWARF
P DD dd
Gametes D d
F1 Dd Tall
F1XF1 Dd x Dd
Gametes Dd Dd
B) DIHYBRID CROSS:
Mendel also crossed plants that differed in two pairs of alleles. In this cross he designed to clarify the
relation of diff pairs of alleles. He crossed plants having round yellow seed (character of seed colour)
with plant having wrinkled green seed (character of seed shape) the experiment is given below:
P YELLOW ROUND SEED X GREEN WRINKLED SEED
GGWW gg ww
Gamete GW gw
F1 GgWw
F1xF1 Gg Ww X GgWw
Gamete GW Gw gW gw X GW Gw gW gw
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MENDELISM
F2 GW Gw gW gw
GGWW GGWw GgWW GgWw

GW
GGWw GGww GgWw Ggww
Gw
GgWW GgWw ggWW ggWw
gW
gw GgWw Ggww ggWw ggWw
Phenotypic ratio – 9 (yellow round): 3(yellow wrinkled): 3 (green round): 1(green wrinkled)
Mendel recognized this result as of 2 monohybrid crosses each expected to result in 3:1 ratio,
operating together. The product of two monohybrid ratio (3:1)2 was equal to the di-hybrid ratio i.e.
9+3+3+1 or 9:3:3:1
In this experiment each character is showing dominance of one member. Not only did the member
of each pair of alleles segregate but the allelic pair of diff. genes due another conclusion members of
diff pairs of alleles assort independently into gametes. This concept of independent assortment of
diff pairs of alleles is k/a law of independent assortment. It is simply the result of meiosis.
EXCEPTION/ ADVANCEMENT OVER LAW OF MENDEL
1. Codominance
2. Semi dominance Law of dominance & recessive
3. Suppressor genes
4. Polygenic trait
5. Pleiotropic one gene one character
6. Genome imprinting > law of equivalence
7. Linkage> law of independent assortment
1. CODOMINANCE:
When both alleles of a pairs are fully expressed in a heterozygotes. They are called codominance.
Such alleles exhibit unique pattern of expression in which both alleles express themselves. E.g. –
ABO blood group here both genotypic & phenotypic ratio is same i.e. 1:2:1
2. SEME DOMINANCE: (Incomplete dominance)

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MENDELISM
Semi dominant product in the heterozygous condition is intermediate b/w dominant & recessive
alleles e.g. In snap dragons heterozygotes for colour alleles have pink flower in contrast to red &
white for the dominant & recessive homozygous respectively.
3. SUPPRESSOR GENE:
When a gene product can suppress the expression of a dominant allele than the gene inhabiting the
expression is called suppressor gene. It goes against the law of dominance e.g. proto –oncogene.
4. POLYGENIC TRAIT & PLEIOTROPY:
These are certain characters which are governed by more than one gene. They are k/a polygenic
traits e.g. Ht, skin- colour, eye- colour etc. On the contrary these are some genes which can govern
more than one character. They are k/a pleiotropic e.g. gene for sickle cell Anemia. These two
phenomena goes against, the low of one gene one character.
5. GENOME IMPRINTING:
In case of genomic imprinting with the change in the source of allele, their expression in the
offspring also change e.g. Huntington chorea syndrome. It is a dominant disorder when the allele
comes from mother it expresses differently when compared with allele coming from father. This
phenomenon goes against the principle of law equivalence.
6. LINKAGE:
The low of independent assortment was not universally applicable. In some cases these are a
marked tendency for parental combination to remain linked & produced new combination. It goes
against the law of independent assortment.
CONCLUSION:
Thus, all the laws of Mendel have exception except the law of segregation, which is a universal or
absolute law & this advancement over Mendel law of inheritance is the result of advancement in the
field of biological, sciences. Though these are many exceptions to Mendel’s law yet they serve many
biological, medico legal & socio economic purposes.
PEDIGREE ANALYSIS
INTRODUCTION:
Pedigree analysis is the study of pattern of inheritance from generation to generation with the help
of certain symbols. It starts from propositus (affected person 1st ). Involves making a pedigree tree &
observance of inheritance pattern out of the tree. Though it is very significant in genetic – counseling
but all kinds of genetic disorders cannot be studies through P.A.
PRINCIPLE OF P.A:
P.A is a based upon the laws of inheritance given by Mendel; including law of dominance &
recessive, one gene one character law of segregation & law of independent assortment.

Sapiens IAS
MENDELISM
SYMBOLS USED IN PEDGREE ANALYSIS: As follows
MALE DIZYGOTIC TWINS
FEMALE
MATING MONOZYGOTIC TWINS
PARENTS & CHILDREN SEX UNSUSPECTED
2, 3 NUMBER OF CHILDEEN OF SEX INDICATED
BOY GIRL
AFFECTED INDIVIDUALS
Male female
HETEROZYGOUS FOR AUTOSOMAL RECESSIVES
Male female
CARRIER OF SEX LINKED RECESSIVE
DEATH
! ABORTION OR STILL BIRTH (SEX UNSPECIFIED)
PROPOSITUS
↗ ↗
i. NUMBER OF GENERATION & NO. OF INDIVIDUAL IN A GENERATION
1 2
ii.

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MENDELISM
CONSANGUINOUS MARRIAGE
METHOD OF P.A:
The study begins with a members of a family having an exceptional phenotype e.g. Haemophilia
Dwarphism etc., who is k/a propositus. The history of the exceptional character in the propositus is
traced back in the family & a family tree is prepared using standard symbol which is used for genetic
counseling.
TYPES OF PEDIGREE:
These are following types of pedigree tree as described below:
1. AUTOSOMAL RECESSIVE PEDIGREE:
i. 1 2
ii. 1 2 3 4 5 6
iii. 1 2 3 4 5 6 7 8 9
Fig: A TRAIT (fibrosis, albinism etc.)DEPENDENT ON A RESESSIVE GENE HAS APPEARED IN ONE
INDIVIDUAL (dark circle)
Here pattern of inheritance may be
(i). Recessive – gene are difficult to follow as they may remain hidden but dominant allele generation
after generation.
(ii). Carries in a population cannot be identified until & affected children is born.
(iii). Recessives are more frequently expressed among the communities practicing consanguineous
marriage inbreeding.
2. AUTOSOMAL DOMINANT PEDIGREE TREE:
i.
1 2 3 4
ii.

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MENDELISM
FIG. PEDIGREE OF DWARFISM (ACONDROPLASIA)
Here pattern of inheritance may be
i. The condition may appear in every generation.
ii. Unaffected can never transmit the condition to the offspring.
iii. Condition is passed on an avg. to one half of the children of an unaffected parent.
iv. Affected parent may produce unaffected children. E.g. (d//d) & (D//d)
3. SEX LINKED RECESSIVE PEDIGREE TREE:
i.
x x x y
ii.
1 2 3 4 5
iii. X y x x
e.g.
Haemophilia, colour blindness, Duchene’s muscular dystrophy.
i. They follow Zigzag pattern of inheritance i.e. (from mother the trait is transmitted to boy child,
who gets affected. If it is transmitted to girl child, she becomes carrier so boys are always affected &
girls are mainly carrier.)
SOME FAMOUS PEDIGREE IN THE WORLD:
So far several pedigrees Analysis in the history of human genetics have been prepared. As follows;
i. Dukes of New –York.
ii. Zero family in SZ.
iii. Family of queen – victoria for haemophilic disease.
CHARACTERS WHICH CANNOT BE STUDIED BY PEDIGREE:
Those characters which do not follow the principles of Mendelism or multifactorial disease, cannot
be studied by pedigree analysis e.g. – Cancer, Diabetes.
SIGNIFICANCE OF P.A:

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MENDELISM
i). P.A is a very useful tool in the field of genetic counseling which is intended to avoid or reduce the
incidence of unifactorial or hereditary diseases.
ii). A pedigree shows that a character showing a dominant disorder then the couple seeking
counseling is recommended for abortion.
iii). If the inherited defect is known to be single gene recessive & both parents are normal, the
chance is 3 in 4 of having a normal child. Although a normal child will have 2/3rd chance of being a
carrier. The parents may like to give birth to such carrier because the chance of his/ her spouse also
being a carrier will be remote. However in such cases even the possibility of having the defective
grand child can be worked out; it is the frequency of heterozygotes in the population is known.
CONCLUSION:
Thus, pedigree analysis is a very significant tool to prevent hereditary disorders which cannot be
cured. Hence in case of hereditary disorders, the principle applied to control the disorder is
“Prevention is better than cure.”
KARYOTYPING
INTRODUCTION:
Karyotype is an important tool which serves many bio- medical purposes. It is based on various
aspect of chromosome which is prepared by painting / staining, photography & followed by
arrangement of chromosomes in decreasing order. It is species specific.
CHROMOSOME:
Chromosome is the condensed stage of chromatin. In human being these are 46 chromosomes. In
case of male – 22+xy & in case of female - 22+xx. A typical chromosome of a man has following
features.
Fig. Structure of Chromosome (IDEAL)
Human chromosome can be typified on the basis position of centromere. These are as follows;

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MENDELISM
BASIS OF KARYOTYPING:
The karyotype of any organism including man is based on size of chromosome, length of the arm,
secondary constriction & satellites. The karyotype is the characteristic of an individual, species,
genus or larger grouping.
MEANING OF KARYOTYPE:
It is the characteristic of a particular chromosome set in which the pairs of homologs are ordered in
a series of decreasing size. In other words the arrangement of whole chromosome of a cell is k/a
karyotype.
Fig. KARYOTYPE OF DROSOPHILA (IDIOGRAM)
METHOD OF PREPARATION OF KARYOTYPES: As follows
BLOCKING OF METOSIS AT
METAPHASE BY CHOLCHIUNE
SEPARATION OF CHROMOSOMES
BANDING TECHNIQUE TO INCREASE

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MENDELISM
RESOLUTION& STAINING DIFF.

PARTS OF CHROMOSOME
PRICE IDENTIFICATION OF
INDIVIDUAL CHROMOSOME
MICROPHOTOGRAPH
ARE CUT OUT OF
MICROGRAPH
Flowchart –Showing
Method of Karyotype LINKING OF CHROMOSOMES

WITH APPROPRIATE PARTNERS
Preparation
KARYOTPING
CHARACTERISTICS OF THE CHROMOSOMES IN THE HUMAN KARYOTYPE
GROUP PAIRS DESCRIPTION

1 A 1→3 Larger metacentric chromosome
2 B 4 →5 Larger sub –metacentric chromosomes
3 C 6→12+x Medium sub metacentric chromosomes
4 D 13→15 Larger Acrocentric chromosomes with satellites
5 E 16→18 16th pair metacentric 17th &18th is small sub-
metacentric chromosome
6 F 19→20 Small metacentric chromosomes
7 G 21→22+y Short acrocentric chromosomes with satellites
but ‘y’ don’t have satellites.
SIGNIFICANCE OF KARYOTYPE:
MEDICINE: Described below;
1. It is helpful in identifying or detecting many congenital disease & syndromes which are related to
chromosomal aberration e.g. Down’s syndromes Klinfelter’s turners syndrome etc.
2. TAXONOMOCAL IMPORTANCE:
Karyotypes of diff groups are sometimes compared & similarities in Karyotypes are presumed to
represent evolutionary relationship.

Sapiens IAS
MENDELISM
CONCLUSION:
Thus, Karyotypes is a very useful diagnostic tool which can be helpful in preventing non- heritable
disease. However it cannot help in controlling heritable disease. Hence in case of genetic disease the
principle applies that, ‘’prevention is better than cure.’’
RECOMBINANT DNA TECHNOLOGY (RDT)
INTRODUCTION:
rDT involves introduction of a desired gene into the DNA of another species mainly. This tech is
based upon similarities in St. & function of DNA from Prokaryotes to Eukaryotes Though it is an imp.
technique which has its implication in various field affecting human being. However it has certain
disadvantages as well.
PRINCIPLES:
This tech. is based upon structural & functional similarities of DNA b/w Prokaryotes & Eukaryotes
the St. of DNA is same in Prokaryotes to Eukaryotes The process of republication, protein synthesis &
genetic code is also similar among them because of this rdt is possible.
METHOD OF Rdt:
TECHNOLOGY: Is describe below;

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MENDELISM
Fig; rDNA TECHNOLOGY
ADVANTAGES OF rDT:

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MENDELISM
The technology does not require large scale investment. The formulating phase for the establishing
of the technology is also not time consuming. It has more access to the masses.
DISADVANTAGES:
1. rDT may be introduced potential hazards if gene/ genes responsible for cancer are closed in & coli
& they escape from laboratory it may spread cancer.
2. There is also possibility that a pathogenic or otherwise a new organism might be produced &
introduced into the ecosystem which may be harmful the environment.
APPLICATION:
rDT can benefit to almost all areas of human life e.g.
1. MEDICINE:
It has brought about revolution in the diagnosis, treatment & prevention of many diseases: As
follows;
DIAGNOSIS: (a) Monoclonal Ab formed by the fusion of tumor causing gene & gene of lymphocytes
(myeloma). It is used in blood typing pregnancy test, presence of pathogen such as virus & bacteria
& early & accurate detection of cancer.
DNA – PROBE:
DNA- probe are small nucleotide (DNA or RNA seq.) used to detect the presence of complementary
sequence in a nucleic acid samples. Probes have been elaborated for detecting – Kala azar, Malaria,
sleeping – sickness & elephantiasis. They are used to diagnose genetic diseases such as thalassemia
& to test pathogens which are difficult to culture such as virus.
TREATMENT:
a) Monoclonal – Ab are used to carry cytotoxic substances to target cells such as cancer – cells.
b) GENE – THERAPHY:
Treating genetic disease by replacing incorrect genes by correct one, which can cure genetic disease.
It has not been successful so far as whole in treating genetic disorder but some diseases have been
cured successfully, such as cystic- fibrosis, ADA deficiency.
c) Hormones & enzymes can be produced commercially to treat disease such as Insulin, GH, factor
viii (for Haemophilia) urokinose thrombolytic substance.
PREVENTION:
a) Monoclonal –Ab are likely to be used to vaccinate against malaria.
b) DNA vaccines or recombinant vaccine can be used to vaccinate against Hepatitis- B foot & mouth
diseases, feline leukemia virus.

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MENDELISM
2. TRANSGENIC PLANTS & ANIMALS:
Transgenic plants such as tomato can be produced (BT-cotton etc.) which are pest & drought
resistant & can also be used for medicinal purpose e.g. golden rice. So they can increase productivity
there by ensuring food security & nutritional improvement.
Similarly transgenic animal such as fishes, pigs, cattle can be produced cost effectively which can
improve nutritional status of the masses.
3. INDUSTRY:
It can be used to produce alcohol, vinegar & so on in an effective manner.
4. ENVIRONMENT:
It can be used to protect environment e.g. oil-bug, which can eat up spilt oil in the ocean.
5. OTHER- USES:
To elucidate molecular events in the biological processes such as ageing differentiation etc.
CONCLISION:
Thus, rDt help us in understanding nature & functioning of DNA; as far as its importance is
concerned it has brought a revolution in the field of medicine.
TWIN STUDY
TWIN:
Twin can be defined as two – offspring born at the same time of the same mother. These are two
kinds of twins (i). Dizygotic/ fraternal twins (ii). Monozygotic / identical twins.
DIZYGOTIC – TWINS:
(i). Results when two ova are produced at about the same time & both are fertilized by two sperms.

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MENDELISM
(ii). DZ twins are genetically no more similar than ordinary siblings.
(iii). DZ twins may be like sexes or of unlike sexes.
(iv). DZ twins are more frequent in old mothers.
MONOZYGOTIC- TWINS:
i). result from the splitting of a zygote at an early stage, formed from a single sperm & a single ovum.
Offspring
Independent embryonic
+ . fertilizing splitting off after development
First division
Sperm ovum zygote Offspring
Fig. MONOZYGOTIC TWINS
ii). Monozygotic twins are genetically identical except some somatic mutation.
iii). Monozygotic twins are always of same sex & it shows no effect of mothers age.
Thus, monozygotic twins are always of same sex but DZ- twin may be of same or diff. sex.
ZYGOSITY:
Zygosity means to determine whether a twin is fraternal or identical. These are four methods of
zygosity such as placental method, similarity method, statistical method & DNA finger printing.
1. PLACENTAL METHOD – Every placenta has four extra embryonic membrane namely –Amnion,
chorion & amnion are used for zygosity. The method of zygosity through placenta is described
below;

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MENDELISM
Fig. MZ/DZ WITH SEPRATE CHORION, AMNION & PLACENTA
Fig. MZ/DZ WITH SEPARATE AMNION & CHORION BUT FUSED PLACENTA

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MENDELISM
Fig. MZ WITH SINGLE CHORION, AMNION & PLACENTA
Fig. MZ TWIN WITH SEPARATE AMNION AND SINGLE CHORION & PLACENTA
Thus, method is not an absolute method. However it can be concluded that all mono chorionic twins
are monozygotic & about 70% MZ- twins have one chorion.
2. SIMILARTY METHOD:
Individual variations are found in many genetic traits such as blood group serum protein, HLA-
system, ribozymes (same enzyme ridge count. Twin can be evaluated on the basis of these features.
MONOZYGOTIC TWINS: They show identical features on all above listed criteria whereas DZ- twins
shows differences.
MZ twins accept skin grafting whereas dizygotic twins reject it.
3. STATISTICAL METHOD:

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MENDELISM
Statistical methods such as Weinberg differential equal in random mating small ‘p’ stands for
frequency of children born & ‘q’ stands for children born in a population since twins of same sex are
MZ & DZ twins may be of same sex or opp. Sex all the DZ twins can be written as;
p2 +2pq+q2 =1
All unlike sex DZ /all DZ = 2pq / p2 +2pq+q2
= 2pq/1
All DZ = unlike sex DZ / 2pq
MZ = total twins – All DZ
4. DNA FINGERPRINT:
It is a unique technique to distinguish one person from another distinctly. The idea behind it is that
every individual has unique constituents of DNA. It is done with the identification of short NTs repeat
(SNR) that is heritable & also k/a UNTR. The UNTR of 2 person may be of equal length & equal
sequences at certain sites but definitely vary at others & thereby it ensures uniqueness.
DNA OF HOMOLOGOUS
CHROMOSOME PAIR
VNTR
MOTHER FATHER

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MENDELISM
Fig. INHERITANCE OF VNTR DNA DNA
INHERTED
FROM
MOTHER
UNQUE VNTR OF OFFSPRING

INHERITED
FROM FATHER
In case of identical twins VNTR will show similarity at every sites; on the other hand for zygotic twins
there will be diff VNTR at same sites. Thereby finger printing can help in determining zygosity.
HERETABILITY:
There are certain traits or diseases which are the product of combined effect of gene & the
environment e.g. ht. the proportion of the effect of gene on those features is called heritability in
other words it can be referred to as that proportion of the phenotypic variation in any population
can be attributed to genetic factors.
In practice it is very difficult to estimate heritability because1. Critical mating cannot be produced
due to social implication 2. Man cannot be raised under strict controlled condition 3. Long life spans
however there are several ways to study heritability e.g. twin method & statistical method.
1. TWIN METHOD:
It is the most popular method monozygotic twin have identical set of gene any differences in
phenotype result to from environmental effect for this identical twins are raised apart from one
another in diff environmental (MZ twins) provide an accurate measures of the genetic &
environmental components of certain human traits. When both twins have particular trait they are
concordant and when only one does, it is called discordant. The %age of concordant provide an
estimate of the degree to which a particular trait is genetically influenced e.g. concordance rate for
polio & Rickettsia is much higher in MZ twins. These indicate strong genetic susceptibility to the
disease. Thus twin study provides an opportunity to determine the heritability of a trait.
2. STATISTICAL METHOD:
Heritability of certain human abnormalities can be crudely estimated from the rate at which the
abnormalities occur among close relatives of an affected person compared with the population at
large e.g. heritability of hydro – cephalous is about 0.4 certain kinds of epilepsy is 0.5 (50%).
CONCLUSION:

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MENDELISM
Thus, twin study helps in understanding the role of gene for multifactorial traits which has enriched
the knowledge of human genetics, since it given a complete understanding about the gene &
environment with regards to multifactorial traits.
MENDELIAN POPULATION & H.W. LAW
MENDELIAN POPULATION:
The unit of evolution is population which can be defined as a group of individuals actually or
potentially interbreeding living with in a circumscribed area at a given time since Mendelian law
apply to the transmission of genes among the individual of a local breading population. It is
described as Mendelian population.
CIRCUMSCRIBED AREA
INDIVIDUALS
GENE FLOW
(Due to interbreeding)
Fig. MENDELLIAN POPULATION
SALIENT FEATURES OF MENDLLIAN POPULATION:
1. Individuals of a population have somewhat similar genetic constitution except for some
uniqueness.
2. All the individuals of a population share in the same gene pool. (Total gene of a population).
3. Gene of individuals of current generation comes from the previous generation which follows
Mendelian laws of inheritance in general.
4. There is a free gene flow (interbreeding) of a population because of free interbreeding.
5. Each member of a population has equal chance of mating which any other member of opp. Sex.
6. Inter population interbreeding is occasional & intra population interbreeding is frequent.
7. Because of occasional interbreeding between the individual of sister population their gene pools
are entire species gets reshuffled continuously.

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MENDELISM
Fig. RESHUFFLING OF GENES WITHIN THE MEMBERS OF SISTER POPULATION OF A SPECIES
HARDY WEINBERG PRINCIPLE / LAW
INTRODUCTION:
H.W. law assumes a situation in with population is in genetic equilibrium & there are no evolutions
for this according to them certain conditions should be met. As a result they have given a model of
genetic equilibrium which can be used in population genetics. Besides it helps in the field of
medicine.
ORGANIC EVOLUTION & GENETIC EQUILLIBRIUM:
Evolution is a gradual change biological evolution is gradual process of change in gene frequency
means proportion of an allele to another allele of a gene in a population when evolution is taking
place evolutionary forces are working in a population then the population does not evolve or it
remains in genetic equilibrium the situation of genetic equilibrium is only possible when certain
conditions are fulfilled such as;
 Mutation is not taking place.

 Population should be infinitely large so that changes do not take place by change.
 Mating must take place at random i.e. no natural selection.
 These mating must be equally fertile i.e. no differential reproduction or no natural selection.
Deviation from equilibrium shows that one or combination of these factors are working & leading to
change in gene frequency or organic evolution. However it is very rase that population remain in
genetic equilibrium.
MODEL FOR GENETIC EQUILLIBRIUM:
By considering only one gene which occurs in two allelic forms- Aa, each with the frequency of half
[A] is ½ & [a] is ½ they must add up to 1 i.e.

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MENDELISM
[A] + [a] = ½+½ = 1
It the [A] is ‘p’ & [a]is ‘q’ then it can be said as:
P + q =1 then the genotype will be
Or, (p+q) 2 = 1 because genetic is in pair
Or, p2 +q2 +2pq = 1 e.g. pp, qq
DERIVATYION OF THE FORMULA IS DESCRIBED BELOW;
ALLELE FREQUENCY GENOTYPE FREQUENCY OF

GENOTYPE
A p AA p2
Aa 2pq
a q aa q2
OFFSPRING RESULTING FROM RANDOM MATING:
PARENTS FREQUENCY OF MATING FREQUENCY OF OFFSPRING

TYPES AA Aa aa
AA X AA p2X P2 = p4 p4 - -
AA X Aa 2 x p2 x 2pq=4p3q 2p3q 2p3q -
AA X aa 2 x p2 xq2=2p2q2 - 2p q 2 2
-
Aa X Aa 2pq x 2pq = 4p2q2 p2q2 2p2q2 p2q2
Aa X aa 2pq x q2 x 2 = 4pq3 - 2pq3 2pq3
aa X aa q2 x q2 = q4 - - q4
AA = p4 +2p3q+p2q2
= p2 (b2+2pq+q2)
= p2 x 1
= p2
Aa = 2p3q +2p2q2+2p2q2 +2pq3
= 2pq (p2+2pq+q2)
= 2pq x 1
= 2pq
aa = p2q2 +2pq3+ q4
= q2(p2+2pq+q2)
= q2x 1

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MENDELISM
= q2
Thus, p2+2pq+q2 = 1
Or (p+q) 2 =1
This is k/a H.W. or H.W. law now it can be defined as the relative frequencies of various kinds of
genes or alleles in a large, randomly panmictic population which tends to remain const from
generation to generation in the absence of natural selection mutation & gene flow;
EX. of GENETIC EQUILLBRIUM:
PTC (phenyl thio carbamide) test in human population in human population person with ‘TT’ & ‘Tt’
find with the solution of PTC to be bitter in test. Where as to homozygous ‘tt’ such solution is
tasteless. Moreover person is unaware to the reckoning of PTC & nobody select his/ her mate
according to he/she can / cannot taste the chemical; marriages takes place at random with r.t this
trait suppose in a particular Island or in a town the no of homozygous TT & tt (non-tester)is equal.
The possible marriage should follow as follows; TT XTT, tt x tt, TT X tt. This marriage & their progeny
can be represented by the following table.
MOTHER T T
(.5) (.5)
FATHER
T TT Tt
(.5) (.25) (.25)
t tT tt
(.5) (.25) (.25)
TT= 25%; Tt = 50%; tt= 25%
Taster = 75%, Non- taster = 25%;
The same results are obtained if we consider the union of gametes at the time of fertilization.
OVA T t
SPERM (.5) (.5)
T TT Tt
(.5) (.25) (.25)
T Tt tt
(.5) (.25) (.25)
TT= 25%; Tt = 50%; tt =25%
Taster = 75% & Non – taster = 25%
Thus, gene frequency of PTC remains const. from generation to generation. So it is an ex. Of genetic
equilibrium in other words considering these genes there is no evolution.

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SIGNIFICANCE / UTILITIES / IMP OF H.W.LAW:
1. Hardy & Weinberg presents a hypothetical situation of no evolution. It is the fact population do
change if certain conditions are not met; we can suggest whether a population is evolving or not.
2. This model can be used testify about the hypothesis of gene pool & evolutionary forces that work
on them.
3. It can be used to calculate the frequency of specific allele & specific genotypes, such as
deleterious recessive allele with in population. Thus it can be used for genetic counseling e.g.
In Britain a significant no of individuals used to suffer from thalassemia which is recessive mutation
disorder with the help of this model of genetic equilibrium i.e. P + q = 1 carriers in a population have
been calculated & they have designed the marriage accordingly as a result British population has
been able to reduce the incidence of thalassemia
CONCLUSION:
Thus, this model has enabled population biologist to measures or calculate gene frequency there by
organic evolution can be measured. Earlier study of evolution was qualitative in nature now with the
help of this model the study of organic evolution has become quantified.
APPLICATION OF MENDELIAN LAWS
It serves various purposes which are described below;
1. GENETIC COUNSELLING:
100’S of heredity diseases have been discovered. Progression of these diseases in the family can be
predicated by pedigree analysis, which can suggest whether one or both of the parents are carriers.
It both the parents are carrier genetic counselor may advise them not to have a child at all. Thus
laws of model can be used to reduce in the incidence of hereditary diseases.
2. MEDICO LAGAL APPLICATION:
Mendelism can fairly well serve the judgment in the case of paternity dispute with the help of the
rules of dominance or recessive and segregation; it can be stated whether a child is a son / daughter
of a particular person. This can be provide with the help ABO- blood group system & MN – system.
However this method cannot say who is the father, but can say with certainty who is not the father /
parents e.g. no child with group a can come from ‘B’ parents.
3. MEDICAL APPLICATION:
Mendelian principles have helped in the case of many diff kinds of histocompatibility & in born error
of metabolism. The Rh- incompatibility between two parents can result in erythroblastosis foetalis;
when mother is Rh- & father Rh+ blood group analysis of parents can tell well in advance the
probability of blood group of children & hence timely measures can be taken to ameliorate the
situation.

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4. HYBRID VARIETIES:
A large no of disease resistant, early maturing high growth verities of cereals fruits, vegetables &
animals can be produced using Mendelian principle of inheritance.
CONCLUSION:
Thus laws of Mendel can ensure food & nutritional security, promote social order & improve human
health.
GENETIC POLYMORPHISM & SELECTION:
SELECTION:
DEFINITION:
The interplay between environment & organism which leads to adaption is k/a natural selection.
This is the chief arch in the process of evolution through which other evolutionary forces are being
operated. Resulting in descent with modification.
TYPES:
Based upon diff organism environment relationship;
1. NORMALISING / STABILIZING SELECTION / STABLE POLYMORPHISM:
Salient features;
 Operate in constant or unchanging environment for long period of time.

 Introduces homogeneity in the population.
Favours avg. or normal individual or eliminate over specialized or less specialized or less adapted
individuals.
It operates rarely because the environment is rarely constant.
Avg. Avg. Avg.
Fig; STABILIZING SELECTION
 E.g. Optimum birth wt. is 7.3 pound. New born with less than 5.5 pound & more than 10
pound have the highest mortality rate.

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e.g. individuals not perfectly 0 or 0+ are removed from the population e.g. eunuch so that
population shows only discreet individuals with reference to sex – 0 or 0+.
2. DIRECTIONAL SELECTION & TRANSIENT POLYMORPHOLOGY:
Salient features;
 Operates when environment is changing in a particular direction.

 Favours accumulation of those mutations that increase fitness of the population in the
changing environment.
 Favours non avg. or specialized phenotypes & eliminates normal or avg. individual.
Fig. DIRECTION SELECTION
E.g. this kind of selection has been shows by kettle well, in case of industrial melanism in a moth
called Biston – bitularia. When environment got polluted due to industrial revolution in England a
mutation for black coloration spread in the population of white moths that protected it from being
sighted by its predatory birds. However when pollution control measures were taken then again
(white colour moth) increased. That means polymorphic population may exist. But gradually over
the period of time, the transient polymorphism were replaced by monomorphism
BALANCED SELECTION / POLYMORPHISM OR SUPERIORITY OF HETEROZYGOTES:
When in a population heterozygotes (Aa) are superior to both homozygotes (AA/aa). It is favored by
selection.
An outstanding e.g. is the selective control of sickle cell gene. Hb has many distinct form – HbA, Hbc,,
HbE, HbS, HbM, Hb- Hikari etc. blood group A, B, AB, & O are also a case polymorphism. The genotype
Hbs can produce a person with sickle cell anemia which usually causes death at an early age. The
heterozygotes Hbs Hbs has blood containing both ‘Hb’ (both normal & sickle celled . many areas
such as us natural selection is operating to eliminate the allele Hbs since the fitness of the individuals
with sickle cell anemia is effectively zero but in many parts of Africa, southern Europe & the middle
east there are population with very high Hbs frequency, as high as 20%.It means that as many as 32%
of the individual in this population have the sickle –cell trait or sickle –cell anemia. The frequency of
Hbs is starting especially when we remember that the frequency of allele for phenyl ketoneuria, also
a deletoriales recessive disorder ……………………………………………………

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Is just 0.01% or less in all population for which data are available.
It has been found that the high frequency of Hbs is found in the areas characterized by high
incidence of falciparum malaria. The distribution of Hbs correlates highly with that of malaria. This
suggest that it is the heterozygotes with both Hbs Hbs who is relatively resistance to malaria & has a
higher fitness than either of the homozygous type (AA/aa). Malaria involve parasite a protozoa k/a
plasmodium which reproduce in part in RBC & do not do well in the presence of Hbs probably due to
inadequate o2 supply. The fitness of the anemia individual (Hbs Hbs) is low because of the effects of
the sickle cell anemia. The fitness of normal homozygous individual (HbA, HbA) is lowered because of
the high mortality due to malaria often leaves the victim sterile. However the fitness of the
heterozygote is relatively high due to the lower mortality from malaria. It is the heterozygote who
has the greatest probability of surviving, reproducing & contributing most genetic material to the
next generation. This situation in which the heterozygous individual is best fit is the form of
biological polymorphism.
POLYMORPHISM
MEANING:
Genetic polymorphism is the presence of several distinct forms of a gene in a population with
frequency > 1% e.g. ABO bold group.
PHENOTYPE POLYMORPHISM:
In the presence of several distinct forms of phenotype trait with in a frequencies > 1 % e.g. tall &
dwarf forms of the character ht.
BALANCED POLYMORPHISM:
In the maintenance of two or more alleles each of them has equal frequency in a population. It is
the result of heterozygous selection e.g. sickle –cell trait (HbA Hbs).
INBREEDING / CONSANGUNOUS MARRIAGE:
INTRODUCTION:
Inbreeding or CM is found in many communities of the world. The impact of inbreeding is mainly
deleterious. This social phenomenon which is having implications on human health can be controlled
by the cultural response i.e. incest- taboo.
MEANING:
CM/ inbreeding are marriage between close relatives who consider them having common ancestor a
few generation back. The degree of consanguinity depends upon the distances of relationship & it
also varies from society to society.

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Fig; showing the extent of consangunity
Thus highly consanguinous marriage are between father daughetr, mother, son, brother, sister. It is
because a large no of genes are shared.
TYPES OF CONSANGUINOUS MARRIAGE:
Mots common types are cross – cousion marriage, II- cousion marriage & uncle – niece marriage.
PARALLEL COUSION MARRIAGE:
Marriage between offspring of same sex and same generation.
Fig. PATERNAL PARALLEL COUSION MARRIAGE

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Fig: MATERNAL PARALLEL COUSION MARRIAGE
CROSS- COUSION MARRIAGE:
Marriage between offspring of diff sex & same generation
Fig: PATERNAL CROSS COUSIN MARRIAGE
Fig: MATERNAL CROSS COUSIN MARRIAGE
EFFECT OF INBREEDING:
It has no effect on the inheritance of dominant allele. But it has effect on that of recessive allele in
the following way.
1. EFFECT IN THE SHORT RUN OF CONSANGUINOUS MARRIAGE: (Increasing in homozygosity)
Close relative share similar genotype a as result of inbreeding the probability of carrier mating a
carrier increase recessive disorders get expressed & disease appear e.g.

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a.) Although 0.1 of marriage in USA is between first cousin. However around 8% of albino children
are found along them.
b.) Dwarfism is prevalent among the AMISH people of lanchester country. The no of Amish people is
small & practices inbreeding in order to maintain cultural entity. There is no found a high %age of
some rare allele such as one responsible for Ellis VAN CREVALED SYNDROME, characterized by
dwarfism, polydactyl, malformed heart etc. the syndrome is very rare with fewer than 50 cases are
found outside the Amish population. But among the small Amish population 43 cases are known.
C). recessive autosomal disorders are quite frequent among the communities practicing cousin
marriage.
2. IN THE LONG RUN EFFECT:
CM are not always considered to be harmful. It is found that people who have tradition for hundreds
of years of practicing consanguineous marriages or inbreeding do have the incidence of harmful
recessive alleles less or nil; since consanguineous marriages of much longer duration reduce the
proportion of heterozygote through natural selection i.e. through the death of the individual harmful
recessive alleles are lost from the population. Thereby normal alleles continue in the population.
Thus in the long run the net result of consanguineous marriages is similar to those populations
without such practices.
3. LOSS OF GENETIC DIVERSITY:
Because of elimination of recessive alleles, population loses genetic diversity in the gene pool. Since
environment is over changing mutant gene though mainly harmful can be provide to be beneficial
e.g. sickle –cell allele can provide resistance against malaria.
CONTROL OF IMPACT OF INBREEDING:
Through inbreeding is mainly harmful & helps in the appearance of disease which cannot be cured
prohibition of inbreeding / CM can reduce the impact by preventing from the appearance of
recessive disorders.
CONCLUSION:
Inbreeding is mainly harmful though it has severe impact in the short run however with the passage
of generation; the impact of inbreeding can be neutralized. It is responsible for many recessive
disorders, yet it can be controlled by cultural response i.e. incest taboo.
GENETIC LOAD
INTRODUCTION:
G.L. means presence of harmful alleles in a population source of which is always a mutation effect of
genetic load may be (+) positive or (-) positive depending upon the environmental conditions.
MEANING OF G.L.

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G.L. can be defined as the extent to which a population departs from a perfect genetic constitution
others words it means deviation from a perfect genetic constitutions.
SOURCE OF G.L.
It is evident that load can be increased by high rate of mutation & decreased by low rate of
mutation. Natural selection can only increase or decrease number of such genes in the population.
It has however no role in the formation of G.L.
EFFECT OF G.L.
1. The effect of G.L. may be expressed through death may be due to genetic disease or through
sterility or inability to find a mate or by any means which reduce reproductive ability to the optimum
genotype.
2. It is usually conceived that population with small G.L. will survive & population with large G.L. will
become extinct but the population with small G.L. may become extinct in small duration of time on
the other hand. The population with large G.L. may be successful when subject to new environment
in which formerly deleterious allele, now able to survive thus absence of G.L. may be more
detrimental to the population than its presence.
3. Self-thinning of population decides the survival of the species population size must match with the
carrying capacity of the environment self-thinning of population is essential for population
stabilization which can be done by G.L.
CONCLUSION:
Thus, contrary to earlier believe of G.L. as dreaded monster; it may increase fitness of the
population. In other words it is harmful for individual but beneficial for the population.
GENETIC IMPRINTING
INTRODUCTION:
G.I/ genome imprinting is contrary to the law of equivalence given by Mendel. It is species specific &
erasable. Methylation is the key mechanism of genome imprinting. It has many bio- medical
significance.
LAW OF EQUIVALENCE:
According to Mendel irrespective of source of alleles they behave equally which transmitting from
one generation to other generation. However G.I. is an exception to this law.
MEANING OF G.I & EX.
G.I is a condition in which male & female stamp their genes with their marking so that gene for the
same character from mother will have differently in the offspring from that of a father on this basis it
can be identified that genes in the offspring are of maternal / paternal origin e.g. Huntington
syndrome is an autosomal dominant disorder source of the gene for offspring can be both maternal
& paternal. In both cases whether it is paternal or maternal the symptoms of the disease will be

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same (progressive deterioration of muscle) but the time of initiation of diff symptoms, severity will
be diff depending upon whether the gene is paternal or maternal.
Some other diseases which show G.I are Fragile -X- syndrome, embryonic tumour, Angelman’e
syndrome; cancer & several other diseases.
FEATURES:
 Imprinted genome expressed differently.

 It is erasable.
 Most common in mammals & flowering plants.
 It is species specific.
MECHANISM:
It results due to direct modification of DNA through methylation greater is the degree of methylation
lesser is the chances of its expression. It is generally understood that imprinting affects a
chromosome which survives mitosis but not meiosis.
SIGNIFICANCE:
i). G.I helps to know the source of allele whether it is coming from father or mother.
ii). Variation of diseases according to the gender.
CONCLUSION:
Thus G.I helps in understanding the source of allele. Moreover chances of survivalist of genes
depend upon the marking. It genes are not imprinted while transmitting from one generation to
another their survival capacity decreases.
DNA FINGER PRINTING
INTODUCTION:
DNA- FP is a reliable & unique technique for identification, distinctively. It is essentially a southern
blotting of DNA digested with an endonuclease and probed with a radioactive DNA probe. DNA- FP is
done on the basis of VNTR (variable no tandem repeat). It is generally used for the various types of
identification.
PRINCIPLE OF DNA – FP:
DNA- FP is based on sequence polymorphism that occurs in the human genome sequence
polymorphism are slight sequence difference that occur for individual to individual once every few
100bp. Some of the sequence changes affect recognition site for RE- enzyme, resulting in variation
from individual to individual in the size of certain DNA fragments, produced by digestion with the
particular restriction endonuclease (RE). The size difference is referred to as RFLP ( a probe for a
sequence to identify few of thousands of DNA fragment generated when the human genome is
digested by the RE) The genomic DNA sequence used in this stage are generally regions containing
SNR (short nucleotide repeats). It varies in no from person to but they are inherited. These are VNTR

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(variable no tandem repeat). The VNTR of two person can be of same length & sequence at certain
site, but definitely vary at other sites.
VNTR
FATHER’S MOTHER’S
DNA DNA
Unique VNTR of offspring
DNA with VNTR in offspring
METHODS:
Common source of DNA include Siemens, solid tissue, blood stains, hair roots etc. specimen should
be store in a clean, dry cool condition to minimize contamination by microorganism & DNA
degradation due to DNA are (for cutting DNA). The method of DNA –FP is given below;
ANY SOURCE OF DNA

Extraction of DNA
DNA
RE (restriction endonuclease)

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RFLP
Gel electrophoreses, DNA blotted onto nitrocellulose paper
SOUTHREN BLOTTING
SEPRATION OF VARIOUS RFLP

Denaturation
STRAND
Hybridization with radio SEPRATION
Active probe auto radiography
DNA – FINGERPRINT
The people used for DNA – FP are usually prepared for mini- satellite or micro satellite DNA. The mini
satellite DNA is highly variable mainly due to variation in the no of tandem repeats of short
nucleotide sequence. E.g. GGAGGTGGGCAGGAGG (or A) some example of such probes are 33.65,
33.15.
Simple universal probe is a tandem repeat of GATA, developed from sex chromosome of banded
krait. This probe is reported to be very useful in DNA – FP of not only man but of many other
organism including plants.
ADVANTAGES OF THE TECHNIQUE:
i). It is an absolute technique for identification.
ii). For the establishment of a lab for DNA –FP is not costly affair.
DISADVANTAGES:
i). Lack of awareness of the technology.
ii). Lack of availability of probe we have to import it from USA, which is very costly.
APPLICATIONS:

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i). Identification of animals such as murders, rapist, etc.
ii). In case of disputed parentage, the DNA –FP of the child and suspected mother & father are
compared which can resolve paternity dispute.
iii). In medicine DNA –FP has application in genetic counseling.
iv). Tracking the frequency of donor cell in bone- marrow, transplants, tissues – culture, cell – line
identification etc.
v). In case of animal – husbandry, proof of parentage poaching etc.
vi). Identification in cases of theft, detection of trait markers.
vii). It is also useful in identifying various types of plants for patent e.g. Basmati rice.
viii). Verifying whether a hopeful emigrant i.e. really a close relative of already established resident.
ix). The identification of racial gps; to rewrite biological evolution.
CONCLUSION:
Thus, DNA – FP can be used to identify absolutely; whereas other methods such as blood typing
dermatography etc. all are relative methods of identification.
HUMAN GENOME PROJECT (HGP)
INTRODUCTION:
HG – mapping means a detailed & schematic description of the structural & functional organism of
all the chromosomes in the genome of human. HGP consist of determining the location of all the
genes & sequencing to entire genome. An international effort has been going on in HG- mapping
since 1990. HGM can serve several bio –medical purposes.
HUMAN CHROMOSOME & GENOME:
Human cell contain 46 chromosomes or 23 pairs in case of male there are 444 + XY chromosome no
while in female there are 44 + XX chromosome no all the chromosomes contain DNA which in turn
have genes. HG –means total no of genes in a cell or genes present in haploid set of chromosome.

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Fig: CHROMOSOME CONTAINING DNA & GENES
HUMAN GENOME MAPPING (HGM)
Traditional method of genome mapping which is use in other animals cannot be applied to the ‘GM’
in case of human; since design process cannot be produced for socio – cultural implication & long life
span of human being. As a result new technique have been used for genome –mapping (GM)
including family – pedigree data, somatic – cell hybridization, chromosome banding techniques.
PEDIGREE METHOD:
The X – chromosomes from maternal grandfather without undergoing any recombination passes to
the mother. Whereas it undergoes recombination when mother produce gametes which are to be
identified in children. Recombinant & non-recombinant chromosome can be scored in children by
DNA markers (means RFPL) from the data gene distances and linear order of genes can be
established. This method has been applied in Japan in a joint family, consisting of many generations.
Consequently linkage – map of human X chromosome was prepared.
HAEMOPHILIA
COLOUR – BLINDNESS (red, Green)
OPTIC ATROPHY
TOTAL COLOUR BLINDNESS
XERODERMA PI GMENTOSA
OGUCHI DISEASE
EPIDERMOLYSIS BULOSA
RETINITIS PIGMENTOSA

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Fig. Some of the thousands of genes shown on X chromosomes
CHROMOSOMAL BANDING TECHNIQUE:
Chromosomes are best visible at metaphase of mitosis when chromosomes are arranged at equator.
Thus for chromosomal analysis cells, are taken from those tissues, with are actively dividing such as
bone marrow cells or inducted to divided in culture. The cell are fixed at metaphase by applying
colchicine. After fixation, cells are stained to get the banding pattern. These are many types of
staining producers such as quinacrine fluorescence banding, Giemas staining C- Banding, R – Banding
etc. diff banding technique stain diff parts of chromosomes which have permitted the mapping of
genes on the chromosomes. Missing portion of the chromosome is seen in terms of absent bands,
which can be correlated with absence of a particular trait.
SOMATIC CELL HYBRIDIZATION:
Hybrid of somatic cell e.g. mouse & human cell can be produced by Sendai virus.
Fig. SOMATIC CELL HYBRIDIZATION

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In such hybrid cells, human chromosomes are eliminated as hybrid cells divide & some of the human
chromosomes are retained each of this cell contains a full set of mouse chromosome but only some
of the human chromosomes. Under such condition the loss of specific chromosomes can be studied
by karyotype, so that by relating it with the loss of specific fixation a gene can be located on the
missing chromosome.
SEQUENCE OF THE GENOME:
The overall approach is referred to as Hierarchical short – gun’ approach, with is summarized
below;
ENTIRE FRAGMENT OF
GENOME DNA APPROX
100- 200K.B. INSERTING THEM
INTO BACTERIAL ARTIFICIAL
CHROMOSOME (BAC) VECTOR
POSITIONING OF BAC ON
USING
COMPUTER
ALGORYTHM CLONES
BROKEN INTO PRODUCTION OF
FOR THE BAC CLONE
SEQUENCE SMALL
OF GENE FRAGMENTS
Fig. SEQUENCE OF THE GENOME
HUMAN GENOME PROJECT:
Three billion $ project was formerly founded by the USA with international consortium in 1990. In
May 2006 another milestone was passed on the way to the completion of project when sequence of
the last chromosomes was published in journal NATURE goals of the ‘HGP’ is not only to determine
all the three billion bps in the human genome with minimal error but also to identify all the genes in
these vast amount of data.
Preliminary count indicate30,000 genes in the human genome which is far fewer than predicted by
many scientist to develop faster & more efficient methods for DNA sequencing & its analysis &
transfer this technology to industry to study its clinical, legal & social implication.
APPLICATIONS:

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Detailed knowledge of human genome will provide new avenues for advanced in medicine, bio
medical field, evolution anthro………. Etc.
1. MEDECINE:
 The tracking of the diseased gene will be enormously facilitated e.g. a no of companies
such as myriad genetics started offering easy way to administer genetic test that can show
predisposition to a variety of disease etc. it will also help in the determination of genes
involved in complex diseases.
 Probes for every gene will be available if needed, leading to improved diagnostic
technology for disease susceptible genes & also for gene directly involved in the causation
of specific disease.
 Taylor made drugs can be prepared to accommodate variation in the enzyme & other
protein in drug action & metabolism found among individuals.
 Etiology of cancer, Alzheimer & other areas of clinical interest are likely to be benefited
from genome mapping & possible may lead significant advances in this regards in the long
run.
 Study of genes involved in behavior may lead to new insight into the treatment of
psychological disorders.
2. GENOMICS & PROTEOMICS:
 May individual proteins will be identified & their physiological & pathological state can be
known which will have diagnostic, therapeutic & other uses.
3. EVOLUTION:
It is likely to open new avenues in the study of the theory of evolution in many cases evolutionary
questions can be framed in terms of molecular biology data from ‘HGP’ can illuminate the
similarities & differences between humans & our close relatives.
4. ANTHROPOLOGY:
‘Human genome diversity project arm’ aims at mapping the DNA that varies in ethnic gps. ‘HGDP’
could unblock secret behind & create new strategies for managing the vulnerability of ethnic gps to
certain diseases. It could also show how human population has adapted to these vulnerabilities.
ETHICAL ISSUES RELATED TO HGM: As follows
 Genomic secrecy of an individual can be publicly exposed, which may have harmful effect
on the individual.
 It may promote tampering of human genes i.e. tampering with nature. So should we
interfere with nature or not?
CONCLUSION:
Thus, this ongoing project when completed can bring revolution in the field of medicine. However
before completing the project all the ethical issues should be addressed to the extent of absolute
human welfare.

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GENETIC COUNSELLING:
INTRODUCTION:
The most immediate & practical services that genetics can renders in medicine & surgery is ‘GC’. It is
done on the basis of knowledge in genetics, medicines, molecular biology, biochemistry etc. with
certain rules and a set of condition. Immensity useful the management of genetic disorders genetic
disease include hereditary & non-hereditary disorders. Some of them are medicine below;
HERIDITARY DISEASES:
1. Autosomal Acondroplasia, Hunting ton’s chorea brachydactylic mar fans syndrome etc.
Dominant
2. Autosomal Albinism, cystic fibrosis, phenylketoneuria, alcaptoneuria thalassemia etc.
Recessive
3. Recessive sex Haemophilia, colour blindness hydrocephalus etc.
Linked inheritance
4. Dominant sex vitamin –D resistance rickets, blood group xg.
Linked inheritance
There are some diseases which are not hereditary but genetic disorders, which include downs
syndrome, patau’s syndrome, Edward, Klinefelter’s, Turner’s syndrome etc.
MEANING OF G.C.
It refers to the totality of the activities that established the diagnosis of a genetic disorder access the
recurrence risk, communicate to the patient & family & provide information regarding potential,
economic social & psychological burden G.C. is possible for a significant no of diseases.
TYPES OF G.C.
Are two types
1. PROSPECTIVE G.C. – These allows for the true prevention of disorder. It requires identifying
heterozygous individual (carriers) for any particular defect by process & explaining to them the risk
of thus having effective children, it they marry another heterozygous for the same gene. The
application in this field includes sickle cell anemia, thalassemia & so on.
2. RETROSPECTIVE G.C – Most G.C at present is retrospective i.e. hereditary disorders has occurred
within the family. The latter type of G.C is more prevalent.
PROCESS IN G.C
1. Indicate in G.C

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 Advanced maternal age

 Intra uterine growth delay
 Previous child with genetic disorder
INDICATION METHOD
Bio – chemical disorders Protein assay & DNA diagnosis
Congenital anomaly Sonography & foetoscopy
Screening for neural tube defects & trisomy Maternal serum – x fetoprotein & chorionic
Gonadotropin
2. TOOLS FOR G.C – includes
i. AMNIOCENTESIS: Examination of a sample of amniotic fluid makes possible the prenatal diagnosis
of chromosomal anomalies & certain metabolic disorder. It is done as early as 14th week of
pregnancy, when abortion of the effected fetus is still feasible.
a). KARYOTYPING: It helps in diagnosis of chromosomal aberration, whereas metabolic defects by

biochemical analysis of the amniotic fluid.
b). BIOCHEMICAL ANALYSIS OF THE FLUID: e.g. sickle cell can be detected early, chiefly by Hb-
electrophoresis, using Guthrie blood spot cystic fibrosis is based on the measurement of the immune
reactive trypsin in Guthrie blood spot. Thalassemia minor can be detected by studying the blood
picture. Carrier of phenylketoneuria can be detected by phenyl Alanine tolerance test.
ii. PEDIGREE ANALYSIS: (P.A.)
By means of P.A. carrier of genetic disorder can be traced & affected children can be predicted which
has a great significance in controlling hereditary disorders.
STEPS IN G.C –
1. PRE – COUNSELLING ASSESMENT:
Include family history diagnosis, conformation of family history special test etc.
2. RECURRENCE RISK ASSESMENT:
Based on pedigree analysis, medical literature, test results.
3. COMMUNICATION:
Recurrence risk treatment it available. Preventive measures including prenatal diagnosis etc.
should be conveyed to counselee.
4. FOLLOW UP STEPS:
Written reports to be referred physician, consultant & appropriate health care agencies, self-help
organism regarding genetic diseases

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RUES FOR G.C –
1. To advice on the basis of latest & best genetic information.
2. Careful record of the propositus.
3. Exact diagnosis to differentiate between a genetic disorder & a phenotypically similar clinical
condition.
4. Avoidance of value – judgment proper information.
5. Advice the party concerned of the facts regarding genetic disorders. The final decision should be
made by the person seeking counseling personal opinion of councellor has no role in the G.C.
SIGNIFICANCE OF G.C – As given below;
1. Getting rid of defective children by abortion. If the foetus is suffering from some genetic disorders
e.g. Down’s syndrome, Edward syndromes etc.
2. Identification of carriers & thereby prevent hereditary disorders with help of G.C include pedigree
analysis, biochemical assay; carriers of autosomal disorders can identified. Since carriers could not
expression the diseases they can be allowed to born. However should be noted that carrier should
not marry another carrier.
Thus, G.C can reduce the incidence of hereditary disease.
TREATMENT OF GENETIC DISORDER:
With partial or complete success, once genetic diseases is diagnosed, some of the diseases case to
be treated with complete or partial success by medical or surgical method. E.g. diet low in phenyl
alanine is now prescribed for phenylketoneuria children as treatment.
Persons suffering from hemophilia can be treated with complete success by administering artificially
produced factor – viii / ix modern surgical technology have brought great improvement in dealing
with cases of spina- bifida
CONCLUSION:
With the present knowledge & understanding genetic disorder cannot be cured. Hence it should be
prevented by early & appropriate diagnosis which is actually done by G.C creating awareness about
genetic disorders is key to the cannot of genetic diseases.
STRUCTURAL & NUMERICAL ABERATIONS
INTRODUCTION:
Autosomal & sex chromosomal aberration are the result of structural & numerical changes in the
chromosome of man. This chromosomal aberration have disastrous impact on the patient. These are
due to action to various kinds of mutagens. At the present level of technological advancement, this
syndrome cannot be cured but can be prevented.

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CHROMOSOMAL IN A NORMAL HUMAN:
Human being has 46 or 23 pairs of chromosomes have specific shape & size contain the genetic
maternal DNA / genes. When there are any structural (deletion, addition, inversion & trans version)
and numerical changes (mainly aneuploidy in man) in chromosomes, they cause syndromes.
Fig. CHROMOSOME CONTAINING DNA / GENES
CAUSES OF SYNDROMES:
Syndromes / chromosomal aberration in man are due to action of various mutagens which can be
categorized into three types;
1. Physical  - rays, X – rays, cosmic – rays, UV – rays, extreme temperature.
2. Chemical Base analog, alkylating agent, mustard – gas, various kinds of dyes.
3. Biological e.g. virus such as herpes, rub elk dyes.
These mutagens either cause structural or numerical aberrations in chromosomes which are
responsible for various types of syndrome.
STRUCTURAL – ABBERATION:

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NUMERICAL ABBERATION:
Are of various types such as aneuploidy (loss or addition of chromosomes) & polyploidy (loos or
addition of a set of chromosomes). The former is common in man. However latter is not found in
man (in mutes). There is chromosomal non – disjunction. It means failure of chromosomes to
separate & go to opposite poles during nuclear division leading to unequal number of chromosomes
in the daughter cells. It produced abnormal number of both autosomes & sex chromosomes.

Sapiens IAS
MENDELISM
FIG. NORMAL DISJUNCTION & NON – DISJUNCTION
1. MONOGOLD SYNDROME (DOWN’S):
This syndrome finds pseudo- resemblances with typical mongoloid feature. Because of this it is also
k/w mongoloid syndrome. It is a case of aneuploidy, which is the case of chromosomal non-
disjunction. Here 21st chromosomes instead of being a pair showing 3 in no i.e. 46+21st = 47
following consequences of this syndromes are found.
GENERAL FEATURES:
Infant with this syndrome is usually flaccid (low muscle tone), hypotonia & does not cry much in the
new born period.
Short stature (ht) resembling poor
Short & study hands with a typical simian cleft on the palm.

Sapiens IAS
MENDELISM
Palm of the patient has peculiar characteristics.
 A tri- radius near the Centre.

 Absence of pattern in the thinner areas.
 A digital loop between digit 3rd & 4th.
 A wide gap between the 1st & 2nd toes & furrow extends proximally along the planter
surface.
FACIAL FEATURES:
 Broad head
 Round face
 Wide nostril
 Receding maxilla
 Protruding tongue with furrow
 Epicanthic fold on the eye –lid
 Iris shows speckles around the margin.
HEALTH & LIFE EXPECTANCY:
 Very low bp at the time of birth.

 Low resistance to diseases & congenital heart deformities or malformation.
 Nearly half of the live- born patients are dead by the end of the 1st year of life. The principle
causes of death are; respiratory – infection & congenital heart malformation.
INTELLINCE LEVEL:
 Showing various degree of mental retardation & sub – normal intelligence.

 To generally falls in the range of 25-50.
FERQUENCY:
1/700 live birth however its frequency among consider (white race) is increased upto3/200of all live
birth.
2. KLINEFELTER SYNDROME:
Is an increase in the no of x- chromosome in male i.e.
44 + xxy = 47
44 + xxxy = 48
44 + xxxxy = 49
It is due to chromosomal non- disjunction during meiosis or gamete formation. This syndrome
exhibit following features;
GENERAL FEATURES:

Sapiens IAS
MENDELISM
 Patient look like a male having long legs.

 Normal development of normal genet ilia but testis is very small & do not produce sperm
hence sterile.
 Development of breast.
 Ht is greater than avg. but disproportionately long legs.
 Poor growth of facial & body hair & have diminished libido potency.
 Voice is high pitched.
FACE - NORMAL
HEALTH & LIFE EXPECTANCY
 They have androgen deficiency so the secondary sexual characteristics are poorly
developed.
 Growth & physical development are quite norms.
 Males tending to be taller.
INTELLIGENCE LEVEL:
 Patient has below avg. intelligence.

 They are not able to get higher education.
 Frequency is 1/100 live birth.
The older mother have a slightly enhanced risk of producing such new – born.
CONTROL: (for all syndromes)
Syndromes cannot be cured prevention is the only option which can be accomplished in the
following way.
Through the genetic counseling by using various diagnostic tools such as pedigree analysis, amino
synthesis & bio chemical assay it can be identified that weather a person is suffering from syndrome
or not after the diagnosis , it a foetus is affected with chromosomal abnormalities, the person
seeking the counseling may be suggested to get rid of the foetus by abortion.
In case a child is born with syndrome, in some cases they can be treated but cannot be cured e.g.
person suffering from turner’s syndrome can be treated with estrogen which allow the adult to
develop secondary sexual characteristics & live a comparatively satisfactorily although a sterile a
married life.
CONCLUSION: (for all syndromes)
Thus, syndromes cannot be cured but prevented moreover changes in individual due to
chromosomal aberration have no role in evolution since the person suffering from syndromes are
eliminated by nature & thereby they cannot transmit thus gene to the next generation.
GENE MAPPING
INTRODUCTION:

Sapiens IAS
MENDELISM
Genes when transmitted in a group from one generation to next is called linked gene and the
phenomenon is K/A linkage. Linkage / gene mapping involve design process out of which
recombination %age is found out which suggest the position & distance of gene in a chromosome.
However this method cannot be applied to man. Linkage mapping serves many bio- medical
functions.
MEANING OF LINKAGE:
Alleles of diff genes located on same chromosome tend to remain together during sexual
reproduction i.e. they do not exhibit independent assortment such alleles are said to be linked and
the phenomenon & transmission pattern of linked genes is called linkage.
LINKAGE MAPPING: (METHOD)
Following steps are involved in the process of linkage mapping;
1. Determine the linkage group i.e. the characters that move in a block & gp.
2. Two characters namely, grey body & long wings (drosophila) representing 2 genes located on the
same chromosome are chosen for di-hybrid cross.
GREY LONG X BLACK VESTIGEAL
GG LL gg ll
Gametes: G L g l
(grey long) (Black vestigial)
F1: GgLl x gg ll (test cross)
Grey long Black vestigial
(41.5%) grey Black (41.5%)
Vestigial long
(8.5%) (8.5%)
CROSS OVER %age (recombinants)
The cross-over %age i.e. 17% represents roughly the distance between two genes crossover %age
units are called Morgan units (distance)
3. Another character represents by a gone in the same chromosome is chosen & a di- hybrid cross is
done with one of the former gene e.g. the eye colour of drosophila is taken in combination with the

Sapiens IAS
MENDELISM
colour of the body. In this experiment, following the same former method we obtain the crossover
%age of 9% then we can assume the gene for eye colour is in between gene for body – colour &
nature of wing.
IMU
EYE COLOUR
GG
BODY COLOUR NATURE OF WING
17 M.U (MORGAN UNIT)
This types of experiment is continued for all that genes in the linkage group using the crossover %
age the position of the genes are marked on the chromosome.
LINKAGE GPS OF MAN:
Cannot be investigated by the designed crosses moreover man has a long life span new
methodologies have been adopted to find out location of genes in a chromosome. These include
somatic cell hybridization pedigree analysis & banding technique, which is followed by the sequence
of the genes mapping of genes sequence of genes together role in the following fields.
NOTE: follow the application of HGP
CONCLUSION: Same as HGP
GENETIC SCREENING
G.S is a measure to investigate into the incidence of genetic diseases by applying test on apparently
healthy individuals, in order to control genetic disorder effectively. There must be specific condition
for G.S.
MEANING OF G.S
G.S. can be defined as the search for genetic diseases / defects by means of rapidly applied test
(examination) as follow
Examination or other procedure on apparently healthy individuals G.S is possible mainly because
there is better understanding of a large no of genetic disease due to advancement in the field of
molecular biology, genetic & invention of various technology such as rDT or biotech. Apart from this
‘HGP’ which is also expected to throw light on genetic disease to great extent. Hence G.S. has been
important part on public health programme in the developed countries.
FEATURES OF G.S
 Done on apparently healthy person.

 Applied to group.
 Test results are arbitrary & final.

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MENDELISM
 Less accurate.
 Not a basis for treatment.
 Initiative comes from the investigator or agencies providing health care.
TYPES OF G.S
Three types. As follows
1. MASS SCREENING:
Screening for a whole population or sub – group
2. HIGH RISK SCREENING:
Applied to high risk gps. The gps are defined on the basis of research.
3. MULTIPHASIC SCREENING:
Application of two or more test in combination to a large no of people at one time than to carry out
separate screening test for single diseases. It is very much popular in US & UQ.
CRITERIA OF SCREENING TEST:
1. The test must satisfy the criteria of acceptability (for cooperation of people) Repeatability (for
reliability & precision) validity (for testing accuracy).
2. Other condition includes safety case of administration & cost effective.
TOOLS APPLIED IN G.S
Include pedigree analysis, karyotyping using genetic marker i.e. RFL for sickle –cell anemia.
Bio – chemical analysis e.g. phenylketoneuria.
SIGNIFICANCE OF G.S
1. Case detection – It helps in the recognition of unrecognized genetic disease; since diseases
detection is initiated by medical & public health personal, they are under special obligation to make
sure that appropriate treatment is started early. This also k/a prescriptive screening e.g.
phenylketoneuria.
2. Control of disease – This also k/a prospective screening. It leads to early diagnosis, permit more
effective treatment & reduce the impact of genetic disease e.g. Haemophilia, sickle- cell anemia etc.
3. Educational opportunities – It provide opportunities for creating people awareness & for
educating health professionals.
CONCLUSION:
So G.S. concept has immense potential. However it has been over hundred with challenges such as
acceptability, cost, awareness particularity in developing & poor countries.

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MENDELISM
RACE AND RACISM
MEANING OF RACE:
Race can be defined as a group of people having distinctive morphological & genetic traits.
(Or)
DOBZHANSKY:
Defined race as a group of population which all reproductively isolated to the extent that the
exchange of genes b/w them is absent or so low that the genetic differences are not diminished or
swamped.
(Or)
Race a biological concept & there is no race except biological races such races are identified because
of differing gene frequencies resulting from isolation, hybridization, selection small mutation (pt)
non-random mating genetic drift & migration.
(Or)
The terms race refers to discreet groups of human beings who are categorically separated from one
another on the basis of selected phenotypic traits e.g. skin – colour, hair from & combination of the
characteristic of nose, face & lips. The concept of race has been regarded as the classificatory device
which provide zoological frame with in which the various groups of mankind can be arranged. In its
morphological sense, the word race should refers to those groups of mankind, who process well
developed & primarily heritable physical differences from other groups.
TYPES:
A). ON THE BASIS OF FORMATION: As follows
PRIMARY RACE:
Is one which has been modified only by the operation of evolutionary factors. The primary races
have differentiated by early geographical & genetic isolation by the loss of some genes & fixation of
others.
SECONDARY / COMPOSITE RACE:
Is one which the stabilized combination of morphological & metrical features are affected by along
continued, inter mixture of two or more primary races within an area of relative isolation.
B). ON THE BASIS OF MORPHOLOGICAL & GENETIC DIFFERENCES:
Includes – Negroid, Mongoloid & Caucasoid

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MENDELISM
FORMATION OF RACE
See synthetic theory
RACIAL CRITERIA
INTRODUCTION:
Racial – criteria are the attributes according to which the human being are divided into differences
races; such as Negroid, Caucasoid & mongoloid. There are two types of racial criteria including
morphological & genetic used for racial classification.
MEANING OF RACE:
Follows previous notes
CRITERIA:
MORPHOLOGICAL CRITERIA: It includes;
1). NON –METRIC:
a). SKIN – COLOUR: Depends upon the [ ] of melanin, a pigment present in the skin & formed by the
cells called melanocytes. People those are living in the tropical areas, they can save their skin by
harmful UV rays by the increasing [ ] of melanin. While those living in temperate zone have lesser [ ]
melanin; in order to produce vitamin – D with the help of very limited availability of UV – rays in the
environment consequently people of tropical areas such as Negroid has dark complexion, whereas
people of temperate zone have white complexion.
There are three distinct categories of people based on skin colour;
 LEUCODERM – Various shades of white e.g. Caucasoid.

 XANTHODERM – Various shades of yellow e.g. Mongoloid.
 MELANODERM – Various shade dark skin e.g. Negroid.
b). HAIR COLOUR, TEXTURE & FORM:
HAIR – COLOUR: Hair colour of difference races varies from light blonde to brown (Caucasoid) brown
to brown black (mongoloid), Brown black (Negroid).
The differences in the hair colour is due to differences in the some pigment melanin. In most parts of
the world hair colour is dark. Brown & red colour are found in N –W Europe. Genetically red hair
seems to be produced by single – pair of recessive alleles. Dominant genes are involved in the
production of black hair.
HAIR TEXTURE: Caucasoid fine (less than 56), Negroid – medium (57-84), mongoloid coarre (<
85)

Sapiens IAS
MENDELISM
HAIR FORM: Cymotrichous /wavy (Caucasoid). It can be further classified as broad narrow & curly
wary leitrichous (mongoloid) and can be differentiated as straight smooth & flat smooth
ULTRICHOUS/WOLLY/ KINKY (Negroid). It can be differentiated as frizzly & filfil. Filfil is characteristics
of Bushmen who have small nods of thick rolled hair separated by pare spaces.
c). EYE SHAPE & COLOUR:
On the basis of shape of the eye races can be divided into mongoloid & non- mongoloid in a typical
mongoloid eye palpebral fissure is oblique, the opening of the eye is narrow & the epicanthic fold is
present.
Colour of the eye varies from light blue in to brown –black & is due to the pigments on both black &
front sides of iris if pigments are only on back side, then blue eye colour results when it is on both
sides brown –black eye colour results.
CAUCASOID – light blue to light brown.
MONGOLOID – light brown to light brown.
NEGROID – dark brown to brown black.
d). DERMATOGRAPHY:
Dermatography is the study of the ridge pattern on the skin finger, toes palms. These pattern are
permanent & do not change with age. It is found that maximum whorls ( ) occur in mongoloid &
loops ( ) in Caucasoid & arches ( ) in Negroid. The palmer main line formula – 11, 9, 7 is found in
Caucasoid 7, 5, 5 in Negroids & 9, 7, 5 in mongoloids.
Dermatography has the advantages that being polygenic in nature it is rather more difficult for
mutation to affect the characteristic pattern.
2. METRIC:
a). FACIAL INDEX – It is described as %age of length in relation to breadth.
Facial index = length of the face/ breadth X 100
On the basis of facial index three types of face are recognized;
Euryprascopic – Caucasoid (less than 84%) broad
Mesoproscopic – Mongoloid (b/w 84 & 88%) middle
Leptoproscopic – Negroid (more than 88%) narrow
b). NASAL INDEX – Is calculated as 5age of breadth of nose in relation to its length.
Nasal index = Nasal breadth/length X 100
On the basis of nasal index three types of nose are found. It seems to be an adaptive feature;

Sapiens IAS
MENDELISM
Platyrrhine/ broad Negroid
Mesorrhine / medium Mongoloid
Leptorrhine / narrow Caucasoid
Platyrrhine condition seems to be effect of heat adapting because board nostrils permits exit of
greater quantity of warm air from lung giving coding effect.
Leptorrhine condition seems to be a cold adapting because a narrow elongated nostril provides
enough surface area for the incoming air to become warm.
c). CEPHALIC INDEX: Shape of the head is largely genetic; through environment also has some role to
play e.g. European emigrants in US have somewhat altered shape of the head.
Cephalic index = breadth/length X100
On the basis of cephalic index three types of head can be found;
Doliocephalic/ long Negroid (less than 76%)
Mesocephalic / medium three races (b/w 76&83%)
Brachicephalic / broad common in mongoloid (<81%)
d). STATURE:
Stature is dependent upon both environmental & hereditary factors. Environmental factor for
stunted growth include forest & mountain living, excessive cold, low nutrition etc. whereas for
tallness open wondering habit, free air & excess sun – shine, regular life & high nutrition is important
among the hereditary factors besides genetic blue – print secretion from pituitary thymus & gonad.
It is commonly used as criteria for classifying primary races; martin’s scale of ht. is mostly followed.
According to this a person having ht. > 170cm is considered tall from 160-170 cm is medium & <160
cm is considered short. As per this scale the Caucasoid, Nilotic Negro Sikh and Rajput of India are tall.
The Mediterranean & Dravidian are medium & Andamances & Negrillos are short stature.
GENETIC CRITERIA:
1. ABO – BLOOD GROUP:
Of the four blood groups, A, B, AB & O; classified by lansteiner, ‘o’ is the commonest one (because it
is the wild type).Its gene frequency in worldwide avg. is 62%. It is followed by A- gene (22%) & b-
gene (16%).
O – TYPE:
Simplest condition exist in American – Indian who exclusively possess Io (o- allele), with almost
negligible Ia or Ib. the Eskimos have sufficiently high frequency of Io with little Ia & Ib.
A – TYPE:

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MENDELISM
Ia occur is very high frequencies in some regions of Europe & Asia & also among certain Australian
tribes. Most of the Caucasoid shows prevalence of Ia.
B – TYPE:
The highest frequency of Ib gene is observed in N- India & central Asia. It appears that frequency of B
– gene decreased & that of A – gene increase as one proceeds westward from the pacific cost of Asia
to the Atlantic coast of Europe.
2. HEMOGLOBIN:
There are many polymorphism of HB such as Hbs, Hbc, Hbe, Hbd, Hba, HbPunjabi ,Hbtongarike, HbBombay
HbLufthansa etc. the Hbs – variant is well distributed in. Africa because it provides resistance to malaria.
It is also found in S – India. Hbc is well distributed in E- Africa. HbE is common in S-E- Asia. HbD &
HbPunjabi has been found in various parts of the world, Sikhs & Guajarati in India.
3. CHROMOSOMAL VARITION:
The most striking variation is in the length of the Y – chromosome, which can be as large as a
member of the D- group of human chromosome. A long Y- chromosome is relatively common among
Japanese & very short one in Australian aborigine.
CONCLUSION:
RACISM
INTRODUCTION:
Race is a biological concept & it is a valid concept, whereas racism is a culturally determined concept
which is a disintegrative factor for the human society. Racism is based upon four pillars including
purity and superiority of blood, fine colour, mental & physical ability & cultural superiority. UNESCO
has adopted a universal declaration in order to combat racism throughout the world.
RACE:
Race can be defined as a group of people having distinctive morphological & genetic traits.
(OR)
According to dobzhansky race can be defined as a group of population which are reproductively
isolated to the extent that the extent of gene between them is absent or so low that the genetic
differences are not diminished or swamped.
FEATURES:
1. Race is the result of differences in gene frequency under differential environmental condition due
to mutation, recombination, natural selection, isolation hybridization, genetic drift etc.
2. The races differ from species in two ways;

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MENDELISM
a. Absence of reproductive isolation.
b. Smaller amt. of genetic differences.
Hence differences races is man are diff. sub – species & not species.
3. Differences in races are the reflection of environmental adaptation.
4. Intelligence do not take any part in the classification of races.
5. Cultural differences are not the causes of racial differences.
6. The so called pure race are now here found; neither these days nor they were found in the found
in the part. They have been intermingling of races going on since time immemorial without adverse
effect.
RACISM:
Wrong & unscientific thinking of race have given birth to several social injustices & many tyrannical
activities 7 have strengthened the feeling of high & low amongst several races. This has come to be
k/a Racism. Thus, racism in the bitter thinking which given birth to the growth of feeling of high low
among races.
BASIS OF RACIAL – ARROGANCY:
1. PURITY & SUPERIORITY OF BLOOD:
Differences in blood group between the races is in reality to the same extent as there are chances of
variation in population of a race.
Most American Indians e.g. exhibit a high %age of individuals belonging to group ‘o’ yet the black
foot & blood tribes in Montana have an unusually high proportion of group B characterizes Asiatic
people. It is also the characteristics of Abyssinians & pygmies in the Congo. Eskimos, Portuguese &
Australian aborigine resemble one another in blood group distribution.
Increasing knowledge of early & pre historic man offers no evidence of pure races; racial differences
in the Pleistocene period were at least as great as they are today. Furthermore the gene possessed
by modern man were undoubtedly derived from the mixed ancestory of Pleistocene people.
2. FINE COLOUR:
Skin colour is exposed for everyone to see & no other character is as exposed as skin – colour. In
other words they are hidden, detectable only by biological test people have prejudice against skin
colour. However it is evident that skin colour is an adaptation to diff climatic condition.
3. MENTAL & PHYSICAL ABILITY:
It can be expressed by the size of brain & body. Size of brain & body differs within the race as well as
between the race. This characteristics is the result of combination of gene & environment. Thus
differences cannot be attributed to only biological factor.

Sapiens IAS
MENDELISM
4. CULTURAL SUPERIORITY:
It can be proved that human civilization, cultural or scientific achievement is not the monopoly of
any particular race. It is in fact a collective achievement of all.
UNESCO’S DECLARATION ABOUT RACES:
Racism causes bloodshed & social disintegration. As a result UNESCO come out with certain pt. to
create awareness about race, so that racial arrogance can be checked which are as follow;
1. All human being on this hemisphere belong to only one species which is Homo – sapiens.
2. All the morphological & anatomical differences are the result of both gene & environment.
3. The change in hereditary trait is because of mutation & cross marriage (Hybridization).
4. Race cannot be grouped on the basis of nationality, religion, region cultural & linguistic factor.
5. The present day classification of mankind as Caucasoid, mongoloid & Negroid does not reflect any
nation of superiority or inferiority.
6. Intelligence do not play any role in the classification of races.
7. Cultural differences are not the causes of racial differences.
8. The so called pure race does not exist ever.
9. The human beings are equal & they deserve equal treatment.
CONCLUSION:
Thus, all the bases of racism is nothing but imaginary & unscientific. There is no divine or spiritual
specialty in any race. The use of the term racism has in fact done on incalculable harm to the cause
of world peace & the imagination of world brotherhood it is desirable & proper to avoid the term
racism.
RACE CROSSING IN MAN
SECONDARY RACE
ADAPTATION:
ECOSYSTEM:
Ecosystem can be defined as any unit that includes all of the organism in a given area, interacting
with the physical environment, so that the flow of energy leads to a clearly cycle within the system.
ADAPTATION & ADAPTIBILITY:
Adaptation refers to the modification in the body organization or physiology of organism which
enable them in a particular environment to thrive so that they are able to secure sufficient food to
protect & to produce successfully for maintaining the continuity of the race. Thus adaptability can be

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MENDELISM
defined to manipulate the environment into one suitable for survival e.g. vitamin –D & melanin
density in the skin.
HEAT TOLERANCE:
DESERT ADAPTATION:
INTRODUCTION:
Human being are able to adapt to hot climate or desert because of physiological, genetic & cultural
modification. Human being is a Homoeothermic animal it must maintain condition has many
biological significance.
Adaption refers to modification in the body organization or physiology of organisms which enable
them to thrive in a particular environmental in order to gel sufficient food & too produced successful
for maintaining the continuity of the race. Thus adaptability can be defined to manipulate the
environment into one suitable for survival e.g. vitamin – D & malanine density in skin.
MAINTENANCE OF CONST. BODY TEMPERATURE IN MAN:
The mean core temperature of human body is  370C or 980F however some individuals can tolerate
a rice of 3-40C above this mean since human beings are homoeothermic / warm blooded animals,
they have to maintain this mean temperature consistently in all-weather condition. It is based on the
principle of dissipation of more heat from the body 7 production of less heat within the body.
Adaptation to heat takes place at three levels;
1. Physiological
2. Genetic &
3. Cultural
PHYSIOLOGICAL:
Hypothalamus is the most important thermo regulatory organ, located in the brain. It accomplishes
this task in the following ways.
a). SKIN TEMPRATURE HIGHER THAN EXTERNAL ENVIRONMENT:

Sapiens IAS
MENDELISM
HEAT IN EXTERNAL ENVIRONMENT

SENSED BY THERMORECEPTORS
IN THE SKIN
HYPOTHALAMUS
HEAT LOSS
PERIPHERAL VASO
THROUGH IN HEART RATE
DIALATION
SKIN
More blood
How to peripheral blood
b). SKIN TEMPRATURE LOWER THAN EXTERNAL EVIRONMENT:
(EVAPORATION)
EXCESS HEAT IN THERMO –

THE RECEPTORS OF
ENVRIONMENT THE SKIN
HYPOTHALAMUS
SPINAL –CORD
HEAT LOSS BY
EVAPORATION STIMULATES SWEAT –
GLANDS IN THE SKIN
Heat loss through evaporation results in loss of water & electrolytes (Nacl). It is observed that in
various hot desert studied a water loss of 8L/day has been found to be the avg. for young man.
However salt excretion declines over the period of acclimatization (short term changes). There is no
population differences in heat tolerance.
Empirical studies in laboratory & in fields have shown & S – African Bantu (marries with cow) who
initially differed in heat acclimatization, but later on most of the differences disappeared.
GENETIC ADAPTATION:

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MENDELISM
In condition of high – humidity, sweating is ineffective. Such condition is called hot & humid climatic
regime e.g. source of red -sea tropical forest, source of Persian gulf size are of immense value to
such climatic condition.
The small size of the body firstly produces less metabolic heat & has large surface area.
Consequently it can dissipate more heat from the body. Extremely small size of pygmies in tropical
forest of Africa & S-E- Asia shows this means of heat loss. The relationship between body –size &
temperature is explained by Bergman’s rule.
Besides body size body shape also play an important role in heat – loss. Long extremities like finger,
toes, limbs, nose & ears having large surface area, which can dissipate large amt. of heat from the
body such increase in extremities has occurred in NELOTICS of AFRICA. This shape of the body & its
relationship with environment can be explained by ALLEN’S RILE.
As far as sweat glands are concerned there is no difference in sweat – glands (in term of its no) in
diff. population. However people living in areas with heat stress since time immemorial have more
no of activated sweat –glands in comparison to people living in other areas.
CULTURAL ADAPTATION –
Culture is the most potent weapon in the hands of human – race. It distinguishes it from other
animals, to survive in unfavorable climatic conditions. In the recent past houses in hot deserts are
built so as to keep inside temperature cool during maximum day time heat.
Clothing usually cover all parts of the body, so as to reduce radiative heating in hot wet environment
housing in open & clothing in minimum to promote sweat.
Electrical or electronic equipment like fan, water cooler, AC, also helps to a great extent to survive
under extreme heat.
Hunters & gathers tend to restrict physical activity during mid-day in hot climate.
SIGNIFICANCE:
These fore hot adaptation has resulted in bio –cultural variations or diversity. In terms of biology it is
responsible for diff body size shape of body presence of active sweat glands through the world.
In terms of culture, people use diff. cultural items & cultural invention is also influenced by
differential adaption.
CONCLUSION:
Thus among all the factors, it is the cultural factors which contribute maximum for human to adapt
to extreme hot climate. Although other factor factors are also working but the culture is the most
imp. factor.
COLD ADAPTATION:
INTRODUCTION:

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MENDELISM
Human beings are able to adapt to cold climate because of physiological, genetic and cultural
modifications. Human being is a homoeothermic animal it must maintain const. body temperature
irrespective of the temperature in the environment. This adaptation to cold condition has many
biological significance.
Same as before
MAINTENANCE OF CONST. BODY TEMPRATURE IN MAN:
The mean core temperature of human body is  370c or 980f. However some individual can be
tolerate a rise of 3-40c above this mean. Since human beings are homoeothermic / warm blooded
animals, they have to maintain this mean temperature consistently in all weather conditions. It is
based on the principle of conversation of more heat within the body & generation of heat inside the
body.
Adaptation to cold takes place at three levels;
1. Physiological
2. Genetic
3. Cultural
PHYSIOLOGICAL ADAPTION:
Hypothalamus is the most important thermoregulatory organ, located in the brain. It accomplishes
this task in the following ways;
a). CONSERAVATION OF HEAT:
TEMPRATURE DROPS DETECTION BY

BELOW 280C THERMO RECEPTORS
IN THE SKIN HYPOTHALAMUS
VASO CONSTRCTION
REDUCING HEAT
RATE

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MENDELISM
HEAT CONSERVATION
Besides people try to reduce heat loss by folding their arms & legs which reduce their surface area
thereby ensuring heat conservation.
b). PRODUCTION OF HEAT:
Adequate body heat is produce voluntarily by physical activity i.e. muscular activity. It has been
found that when nude in active thin individuals is exposed to still 50c for 2 hours.
FALL OF TEMPRATURE
IN SKIN
DETECTION BY
THERMORECEPTORS IN
SKIN
HYPOTHALAMUS
INVOLUNTARY SHIEVERING
HEAT GENERATION
It makes them unconscious however physically fit individual tolerate freezing temperature without
clothing for more than10hrs.
GENETIC ADAPTION:
Body size & shape are of huge value to cold adaption.
Subcutaneous fat in adipose tissues has low thermal conductivity & also its presence reduces surface
area. these two factor together help in heat conservation. Eskimos living in tundra – region of
Canada & N- pole have bulkier body due to presence of subcutaneous fat. Body shape & size play an
effective role in conservation & production of heat. Body size in colder region increase because it
results in greater mass in comparison to the skin area, meaning less surface area. The large body
produce more heat but due to less surface area the heat is conserved man living in cold climate
tends to be large (Bergman’s rule)
Besides body size cold adapted human beings have relatively shorter extremities & limb shorter
extremities reduce body surface area more that is conserved in compression to people having longer
extremities in hot climatic condition (Allen’s rule).

Sapiens IAS
MENDELISM
Nose of people living in colder region in usually narrower which helps in warming up the incoming
cold air some people in the cold climate e.g. the central Australian Aborigines have been reported to
meet cold sleeping condition by having the extremities cool relatively more than trunk & also by
having core temperature.
Eskimos are having greater tolerance in the hand than Europeans. This is associated with increased
blood flow. These are population differences in adaptation to cold in a study the Europeans,
Australian, Aborigines & experiments had shown the following descending order of the whole body
cooling in these three groups,
Bushman > European > Australian Aborigines
In case of Australian – aborigines their body temperature fall much lower. Thus threatened by frost
bite & limbs become numb during night and often burn their extremities.
CULTURAL ADAPTATION:
The nature of clothing the way of construction of shelters & we use of are defiantly most important
of all cultural practices Eskimos use clothing of caribou –fur, N- E- Siberian uses insulated boxes to
sleep. Australian aborigines sleep racked between fire & also chew leaves of Duboisia & Tabacco,
containing alkaloid for warming up body with fire human population can survive freezing
temperature even without clothing invention of clothing definitely aided in our resistance to cold.
SIGNIFICANCE:
Therefore cold adaption had resulted in bio cultural variation or diversity. In terms of biology it is
responsible for diff body size shape and presence of subcutaneous fat & in terms of culture people
use diff cultural items and cultural invention is also influenced by differential adaption.
Conclusion:
Thus, among all the factors it is the cultural factors which contribute maximum for human to adapt
to extreme cold climate. Although other factors are also working but the cultural is the most
important one.
HIGH ALTITUDE ADPTATION
INTRODUCTION:
Tolerance to high altitude occurs at physiological, genetic & cultural level the stress at high altitude
is low PPo2 as a result human body undergo modification at cellular, anatomical & physiological level,
to survive & continue its race at high altitude.
HIGH ALTITUDE STRESS:
Increase in altitude results in decrease in the PPo2. As a result o2 carrying capacity of the body by Hb
decrease consequently vital organs like brain, heat are not supplied with adequate amt. of o2 leading
to various physiological abnormalities & in some extreme case death ‘Hb’ binds with o2mainly by
means of increase in PP. This relationship can be explained by day Hb – dissociation curve.

Sapiens IAS
MENDELISM
FIG. O2 Hb DISSOCIATION CURVEE AT SEA
Thus PPo2 is directly related to binding of o2 with Hb. Human being with their inbuilt biological
mechanism & ability to learn have been able to survive up to the ht. of 5000 m e.g. permanent
residence are found up to this ht. in diff mt. region of the world such as the Himalayas Andes etc.
PHYSIOLOGICAL ADPTATION:
1. INCREASED BREATHING RATE:
HYPOXIC CONDITION
(O2 – DEFIENCY) STIMULARTES MEDULLA –
OBLONGATA (RESPIRATORY
CENTRE IN THE BRAIN
INSTANT INCREASE IN
BREATHING RATE (65%)
NORMALIZATION OF
PO2 INCREASE

Sapiens IAS
MENDELISM
O2 - SUPPLY
2. INCREASED RBC & Hb:
It is a slow process & evident after few weeks of acclimatization.
HYPOXIC
CONDITION
STIMULATION
OF KIDNEY SECRETION OF
ERYTHROPOITIN
BINDS INCREASE IN
WITH RBC & Hb
MORE O2
3. INCRESED LUNG SURFACE:
It means more o2can differs to blood. It is achieved through expansion of blood capillaries in lung.
4. INCRESED TISSUE BLOOD SUPPLY:
It is due to increase in cardiac output & growth of additional capillaries in tissue.
5. CELLULAR ACCLIMATIZATION:
Hypoxic condition causes increase in the no of mitochondria o2 inhaled is ultimately used by

mitochondria for cellular respiration producing energy needed for all activities.
GENETIC ADAPTATION:
The permanent inhabitants of high altitude such as Peruvian – Andes, Tibetan are better
acclimatized than a low lander settled for even more than 10 years. It is because of the following
reason;
Their chest size is greatly increased; given a high ratio of ventillatory capacity to body mass Sherpa’s
of Nepal are exception to it.
Their body size decreased to reduce the body mass.
Lower body mass can be supported by decreased gas exchanges.

Sapiens IAS
MENDELISM
The rt. Part of the heart is greatly increased to ensure. Supply to larger amt. of blood to lungs for
oxygenation.
Nose is shortened to reduce nasal passage and nostril directed upward.
The most important adaptation is capacity of Hb to extract o2 at low partial pressure. The o2
dissociation curve for the high landers is thus situated rt. to the curve of low landers.
CULTURAL ADAPTATION:
From cultural practices also helps in adaptation in high altitudes e.g. Peruvian – Andes chew some
herbal leaves which do not allow blood to be [ ] ed.
SIGNIFICANCE:
Therefore adaptation to high altitude has resulted in bio cultural diversity. In terms of biology it is
responsible for diff size & shape of the body. However in terms of culture, people use diff cultural
items and at the same time cultural inventions are also influenced by differential adaptation.
CONCLUSION:
Human being is well equipped with biological mechanism but culture has enabled him to exercise
control over forces of nature. Hence he can survive, continue & multiply its race even in stressful
condition like high altitude.
GROWTH AND DEVELOPMENT
WHAT IS GROWTH & DEVELOPMENT
Growth and development are two facets of dynamics of change i.e. those of quantity & quality. They
usually proceed concurrently but may not always be inter - related.
GROWTH:
Can be defined as quantitative increase in size or in no. it is continuous process which beings from
birth & ends with death; except in the case of skeletal bones which do not grow after a certain
period of time. Growth beings with fertilization & achieved by the following processes.
i). ACCRETIONARY GROWTH:
By increase intra – cellular substances
ii). MULTIIPLICATORY GROWTH:
By increase in no of cells i.e. by cell division. It is also k/a hyperplasia.
iii). DIMENSIONAL GROWTH:

Sapiens IAS
MENDELISM
By increase in intra cellular substances e.g. Hypertrophies.
DEVELOPMENT:
It can be defined as attainment of functional competence by progression of changes quantitative &

qualitative, lead from an undifferentiated or immature stage to a highly organized, specialized and a
mature stage.
FIG. SHOWING GROWTH & DEVELOPMENT
Thus growth pertains to structure & development to function. However they are integrated.
GROWTH CURVE
Growth curve is a graphical presentation which reveals the growth pattern of diff parts & tissue of
the body during diff phases of life. Through growth curve studied pattern of growth & development
of diff organs or the whole body can be understood.
GROWTH & DEVELOPMENT:
Follows previous page
GROWTH CURVE –
Is described below;

Sapiens IAS
MENDELISM
FIG. GROWTH CURVE
1. GENERAL BODY GROWTH:
Is rapid during foetal – life, first one or two years of post natal life & also during puberty. In the
intervening years of mid childhood somatic growth velocity is relatively slowed down.
2. BRAIN GROWTH:
It enlarges rapidly during the later month of foetal life & early month of post natal life. Head reaches
90% of its size by the age of 2 years.
3. GROWTH OF GONADS:
Gonadal growth is dormant during child hood. It becomes conspicuous during puberty.
4. LYMPHOID GROWTH:
It is most notable during mid – child hood. Children between 4 – 8 years of age often have hyper
trophid toncils & large lymph nodes. It reaches maximum amt. before adolescence & during adult
phase it regresses to some extent probably due to influence of sex hormones.
SUB – CUTANEOUS FAT:
Sub – cutaneous fat begins to be led down in the foetus at  34, until about 9 months, after which it
decreased age & years; when it begins to increase once again.

Sapiens IAS
MENDELISM
FIG. GROWTH CURVE OF SUB – CUTANEOUS FAT
The decrease in less in girls than boys, so that after one year of age girls come to have more fat than
boys, the increase from 7 years of age occurs in both sexes in limb & body fat. At adolescence
however, the limb fat in boys decreased & is not gained back until the ages of  20years. In girls
there is a slight halting of the limb fat increase but no loss and the trunk fat shows steady rise.
CONCLUSION:
Thus, growth curve shows diff patterns of growth of diff organs of human being. It gives a standard
pattern of growth & development.
FACTOR AFFECTING GROWTH & DEVELOPMENT
INTRODUCTION:
Growth & development are the result of interplay between various factors such as genetic,
environmental, biochemical, nutritional & socio – cultural. Internal factors are dependent on the
external factors for optimal growth & development of human body.
GROWTH & DEVELOPMENT:
Follows previous pages
FACTORS:
1. GENETIC:

Sapiens IAS
MENDELISM
Genes lay down the basis or fundamental pattern of growth & development which can be shown
simply in inheritance of age at menarche. Identical twin sisters reach menarche on an avg. two
months apart & non – identical twins on an avg. 10 month apart. The correlation co - efficient
between age at menarche of mothers & daughter is  0.4, only slightly lower than similar
correlations for ht. it indicates that a high proportion of variability of age menarche in population is
due to genetic causes.
However genetic factors do not act in isolation. It is influenced by other factor, such as environment.
2. ENVIRONMENT:
Environmental effect on growth is seen in following circumstances;
i). MIGRANT POPULATION:
When a section of homogenous population migrates to other land continues to maintain their group
identity; such a population presents an opportunity to evaluate role of environment & growth. The
differences observed between migrants & original populations can be attributed to the effects of
environment e.g. Japanese migration to Hawaii demonstrated that in the new environment of USA,
the migrant population showed an increase in ht & wt.
ii). TWIN STUDY:
It also showed effect of environment on growth. Identical twins are genetically similar & it there are
any differences in growth & development between twins then it can be attributable to the effect of
environment.
3. BIOCHEMICAL:
Human growth & development is largely interplay of hormones secreted by various endocrine
glands. Though some are needed during most of the period of growth & development, one or a few
definitely becomes crucial at some stage of development. Any function in its normal level in blood is
sure to reflect serious imbalances in growth & development.
a). THYROXINE:
i). It acts on cell membrane, causing increase in permeability so that uptake of substances by the cell
is increased.
ii). It acts on mitochondria, increasing its size & no thus alleviate supply of energy needed by the
body.
iii). Acts on DNA & induces DNA for protein synthesis besides thyroxin increases responsiveness of
tissue to other hormones.
PRE – NATAL GROWTH:
CHORIONOC GONADOTROPIN:
Secreted by Placenta

Sapiens IAS
MENDELISM
Help in sex determination
Causes appearance & stimulation of leydig cells of testis or interstitial cell to secrete testosterone,
which helps in the development of testis in male.
b). TESTOSTERONE:
The hormone causes undifferentiated external genetalia to form & pains scrotum. In female absence
of testosterones is sufficient to causes development of every.
POST – NATAL GROWTH:
c). GROWTH HORMONE (GH) / SOMATOTROPIC HORMONE:
It is needed up to the attainment of adolescence. It alone cannot causes growth rather a definite
level of thyroxin is needed.
It causes concomitant increase in muscle also.
It also causes utilization of fat in adipose tissue & shifting balance from fat synthesis to protein
synthesis.
ADOLESCENCE & PUBERTY:
Besides GH from pituitary three groups of hormone from adrenal cortex control growth such as;
i). Mineralocorticoids – Regulate mineral metabolism & chiefly enhances rate of ‘xla’ uptake by
kidney. It ensure homeostasis of the body.
ii). Gluco – corticoids: Increasing use of glucose by peripheral tissues like skin, adipose cells.
Increasing conversion of glucose into protein & increasing breakdown of fats.
iii). Androgen – Concerned with muscular function. However testosterone is the major causes for the
increase in size & strength of male muscle.
d). REPRODUCTION PROMOTING HORMONES:
LH & FSH:
i). LH: In female – causes ovulation
: In male - stimulates leydig cell
- Secretion of testosterone sexual

- Growth of secondary sexual - characteristics
ii. FSH: In female – development of ovarian follicles
- Secretion of estrogen &
- Growth of secondary sexual characters

Sapiens IAS
MENDELISM
: In male – spermatogenesis
- Growth of sertoli – cells of testis
- Secretion of sertoli – cell factor that inhibit FSH
e). SEX – HORMONE FROM GONAD:
Estrogen from ovary & testosterone from testis that causes development of secondary sexual
characteristics of female & male respectively.
In skeletal muscle gonadal hormone has anabolic response having burst in protein synthesis thereby
ensuring growth.
4. NUTRITION:
Nutrition is a very important factor which are the building blocks of growth & development. In other
words they provide raw materials on which other factors act upon to ensure optimal growth &
development.
Malnutrition (excess as well as deficiency) delays growth as is evident from the effects of famine
associated which war during a short period of malnutrition, the organism slow up growth & wait for
better times on the arrival of better time, growth takes place unusually fast, depending upon the
genetically determined growth. During this each up phase wt, ht, & skeletal development seen to
catch up at approximately, the same rates, girls appear to be better buffered , than boys against the
effect of malnutrition or illness perhaps the two X – chromosomes provide better regulatory forces
than single ‘X’ and small ‘y’ chromosome.
5. SOCIO CULTURAL FACTORS: As described below;
i). HOME CONDITION:
According to TANNER, this condition reflects intelligence & personality of parent & provides social &
emotional needs for normal growth & development of children. Depression & excessive grievances
in the family will only causes social & emotional deprivation of child, affecting his normal
development.
ii). ECONOMIC DEPRIVATION & FAULTY FAMILY BUDGETING:
Economic conditions are one of the main causes of socio economic differential of growth &
development. Family budgeting never show child centeredness in such family & their diet is not
better than older members of the family.
iii). NUTRITIONAL DEFICIENCY:
A poor state of economy of weaker section, lack of desire to breast feeding, leading to malnutrition
& concomitant effect on growth.
iv). MINOR ILLNESS:

Sapiens IAS
MENDELISM
Due to poor nourishment & feeding, children of weaker section are very much prone to illness
which in turn affect their normal growth.
v). HABIT OF SMOKING:
Smoking is quit prevalent in weaker section. It causes lower wt. & ht. at birth of the child. The more
distressing fact is that the difference is made throughout life.
vi). DEPRESSIVE & GRIEVING PARENTS:
Intelligence & + positive attitude of parents can create a good home condition, arrange proper
nutritional needs of child at cheaper cost which can help in improving normal growth &
development of the children.
vii). SOCIAL MOBILITY:
In general intelligent boys are taller than avg. boys being intelligent, such taller boys shows greater.
Social mobility towards the upper strata avg. boys being less intelligent are pushed to the all lower
social strata.
CONCLUSION:
Through growth & development are biological phenomena yet they are influenced by socio cultural
factors; since culture varies from society to society or from place to place human being shows
variations in terms of growth & development.
AGEING OR SENESCENCE
INTRODUCTION:
Ageing or senescence is a deleterious change which is compulsory in nature, occurring at latter

stages of life & leading to death. There are various theory which are trying to explain the cause or
process of Ageing. Although it cannot be stopped yet it can be better managed.
MEANING OF AGEING & SENESCENCE:
SENESCENCE:
Deals with changes which occur during the period of obvious functional decline in the latter years of
life span.
AGEING:
Means, simply growing older & ageing changes bring any change related to age regardless of when
in the life span they occur. Thus the onset of puberty might be described as an ageing change but
not as senescence change.
According to sir peter meadbjar senescence is that change of bodily facilities & sensibilities &
energies which accompany ageing, which render individual progressively more likely to die. In other
words, it is a process & causes an increase in the forces of mortality with increasing age.

Sapiens IAS
MENDELISM
CARDINAL FEATURES OF SENESCENCE:
1. Changes are always deleterious.
2. Deleterious age – related changes are cumulative death, the climate result of changing.
3. The progress involved are common to all member of a species & are inescapable consequences of
getting older.
4. Ageing is compulsorily occurring.
THEORIES / CAUSES OF AGEING
1. WEAR & TEAR THEORY:
Suggest that tissue of the body become worm out due to continuous & constant uses & are not
replenished fast.
2. RUNNING DOWN THEORY:
Ageing is a predetermined process which is the intrinsic property of genetic material. According each
organism has specific quota & will age & die as the quota finishes.
3. FREE RADICAL REGENERATION LIPID PAROIDATION, MEMBRANE DAMAGE, LYSOSOMAL

LEAKAGE, LIPOFUSCHIN ACCUMULATION:
Free – radicals are produced & accumulated during metabolism & also by radiation multiple double
– bond systems like lipids can be attacked by these radicals. It disrupts lipid bilayers in the
endomembrane system of cells lysosomes are also damaged by this free radicals, resulting in the
leakage of lysosomal enzyme which kill the cells.
Paroidized lipids (lipids attacked by free radicals) form lipofuschin that accumulate in the cells of
aged person.
4. ERROR IN PROTEIN SYNTHESIS:
As a result certain anabolic proteins functions catabolically in their actions.
5. HISTONE THEORY:

Sapiens IAS
MENDELISM
FIG. HISTONE THEORY
Histone binding to DNA becomes tighter in the course of ageing leading decreased gene expression
or protein synthesis.
6. COLLAGEN CROSS LINKAGE:
Cross linkage of collagen increase with age. This causes red’n in diffusion nutrients & waste products
across the skin.
7. NATURE – NATURE THEORY:
Ageing is due to interaction of the genetic material & the environment.
8. SOMATIC MUTATION THEORY:
A gradual accumulation of mutation; resulting in functional incapacitation of tissue.
9. ATROPHY OF THYMUS:
Atrophy of thymus after puberty gradually reduces immunity of the body, leading to old age.
10. GENE REGULATION THEORY:
According to this theory, propounded by Dr. LEE of university of California in July 2003; longevity in
individual increased with increased degree of parental care. It highlights that it is not only associated
with individuals but also with the spices.
11. VERY HIGH RATE OF METABOLIC ACTIVITY:
During advanced stage of life, slow rate of metabolism enhances life span.
Thus we cannot attribute the process of ageing to a single theory, rather a combination of theories
can better explain this process.
CONSEQUENCES OF AGEING & SENESCENCE:
Consequences are deleterious and are found at diff stage of life like;
1. MORPHOLOGICAL:
Greying of hairs
Loosening of skin
2. ANATOMICAL
Increase in tissue.

Sapiens IAS
MENDELISM
Decrease in elasticity of with tissue.
Decrease in no of neurons.
Increased amt. of fats in the body.
Demographic abnormalities increase e.g. glaucoma due to ageing & thickening of lens, the channel
connecting post & ante chambers of eye get blocked.
Absence of replacement or repairement of essential body parts, e.g. liver loose replacement
capacity, kidney loss nephrons, vain loss neuron & cause increasing dementia.
3. PHYSIOLOGY:
Blood pumping inefficiently
Vital capacity decrease (of lung)
Decreasing muscular function
Enzyme responsible for oxidation decrease with ageing
4. CELLULAR CHANGES:
Cells may not follow the normal course of division. Protein synthesis decreases by 40- 60% & wrong
protein tend to remain longer which in turn affect various physiological functions.
Decrease in transcription, tends to decline the production of mRNA & in turn protein synthesis.
tRNA are degraded more rapidly in old people.
Decrease in the synthesis of DNA polymerase. There by adversely affecting the process of replication
& repair of DNA.
SOLUTION OF AGEING / SENESCENCE:
Though age related detrimental changes are unavoidable, yet they can be managed by the study of
Gerentology. The objective of Gerentology is to put life year & not years into life.
CONCLUSION:
METHODOLOGIES FOR GROWTH STUDIES
INTRODUCTION:
Growth studies are to provide standard of growth & development in a population consisting of
longitudinal, cross sectional & mixed / semi -longitudinal methods. Every method has certain merits
& demerits for growth studies.
GROWTH & DEVELOPMENT

Sapiens IAS
MENDELISM
Follow previous notes
GROWTH CURVES:
AGE IN YRS
AGE IN YRS
METHODOLOGIES OF GROWTH – STUDIES:

Sapiens IAS
MENDELISM
Growth studies normally aims at observing the growth of an individual or setting up standards,
giving the normal variations of a parameter in children at diff age levels. There are following three
methods to study growth.
A. LONGITUDINAL METHODS PROCESS:

A GRAPH DRAWN BY PLOTTING THESE
REPEATED MEASUREMENTS ON DATA’S FOR EACH MEASUREMENTS AT
THE SAME INDIVIDUALS OR DIFF AGE INTERVALS E.G. STATURE
GROUP AT DIFF AGE INTERVALS AGAINST AGE
A NO OF SIMILAR DISTANCE
CURVES PREPARED
DISTANCE CURVE THUS PREPARED
SIMILARITY IN THEIR SHAPE SUGGEST THE

PATTERN OF GROWTH IN THE
POPULATION
AGE IN YEAR
FIG. DISANCE CURVE OF HT. AGAINST AGE
MERITS:
1. They reveal accurately the growth pattern of an individuals. Thus it gives accuracy.
2. It enables us to study changes in the speed of growth making a velocity curve.

Sapiens IAS
MENDELISM
3. It enables us to study any sequence of events e.g. – eruption of teeth, secondary sexual character
etc.
DEMERITS/ DISADVANTAGES:
1. It is time consuming process & not cost effective.
2. It is not easy to obtain a sample sufficiently large & truly representative of the population.
3. Distance curve does not indicate as to how quickly or slowly children grow. However this short
coming can be removed by making a velocity curve which helps us in studying the rate of growth.
B). CROSS SECTIONAL METHOD PROCESS:
In this method diff individuals are included in the study & are measured at each. Age level, but no
one is measured more than once e.g. it we want to study the growth pattern of children between 6-
10 years of age then for each age level we require a sample say 100- children belonging to 6 years;
another 100 belonging to 7 years & so on.
MERITS:
1. It is not time consuming & cost effective.
2. It is best for estimation of population mean at successive age levels.
DEMERITS:
1. The graph made out of cross – sectional study does not represent the growth curve in general.
2. The variation in the rate of growth of children in the population may not be convincingly
demonstrated by this method.
C). MIXED / SEMI LONGITUDINAL STUDY:
In this approach some subjects are measured repeatedly for long period & some for short period/
some only once.
MERITS / DEMERITS:
This approach can provide very useful information but requires special statistical method for analysis
& interpretation of the data.
CONCLUSION:
It is difficult to state as to which method is better. The use of particular method should be in
consistence with the objective of the investigations.
SOMATOTYPING

Sapiens IAS
MENDELISM
INTRODUCTION:
Several scholars have attempted to classify individual human – being on the basis of shape-size
physiology & behaviors out of all SHELDON’S system of classification is k/a SOMATOTYPING which is
highly accepted. Sheldon had classified individuals into Endomorphy, Mesomorphy, & Ectomorphy.
SHELDON’S CLASSIFICATION:
A.) EXTREME IN ENDOMORPHY (obese)
- Round head.
- A large fat abdomen predominating over its thorax.
- Weak floppy arms & legs with much fat in upper arms & thighs, but slender wrist & ankle.
- Relatively large liver spleen & gut (alimentary canal) lungs & heart.
- Great deal of sub cutaneous fat.
- Thoracic & pelvic – skeleton is greater in the anterior posterior than its transverse direction
- Have more fat cells.
FIG. FATTY – BODY
B). EXTREME IN MESOMORPHIC (muscular):
- Represented by Hercules whom muscle & bone predominate.

- Cubicle & massive head.
- Broad shoulder & chest.
- Heavy muscled arms & legs.
- Heart muscle is relatively large.

Sapiens IAS
MENDELISM
- Having minimal amt. of sub cutaneous fat.
FIG. MUSCULAR BODY
POPULATION VARITION IN BLOOD GROUPS
ABO Blood Group System
The ABO blood groups are an example of inheritance resulting from multiple alleles. Landsteiner in
1900 distinguished various types of blood groups A,B,O and AB in various individuals. These blood
group difference are due to alight variation in the chemical structural of the monopoly saccharide
natural at the red cell surface.
These blood group are classified by the presence or absence of two antigens by latter A & B antigen
A is under the control of in allele IA responsible for the B antigen. A third allele produces neither of
the two antigens and is recessive to both co-dominant alleles.
PHENOTYPE GENOTYPE CELL ANTIGEN ANTIBODIES INSERUM
1. Group A IA IA, IA i A anti – B
2. Group B IBIB, IB i B anti – A
3. Group O ii - anti – A & anti – B
4. Group AB IA IB A&B -
The group A also includes two variants A1 & A2 the frequency of the ABO blood groups vary

Sapiens IAS
MENDELISM
In different population over the world and they are used in genetic markers. The blood group are
unaffected by environment and remain unchanged from post natal life until death. Thus inheritance
in clear and obeys Mendelian laves with remark able clarity. The precision in turn inheritance and
the frequency of genes and genotypes makes them useful for ethnic classification.
The direct estimation of frequency of ABO blood groups in a population is not possible because
groups A and homozygotes and heterozygotes cannot be distinguished consequently the calculation
of gene frequency in a certain population involve the utilization of mathematical methods, assuring
that the sample is in hardy Weinberg equilibrium for these alleles.
Since the frequency of the three alleles add up to 1.0 (or 100%) there is some correlation between
there frequencies a marked in one be accompanied by a fall in one or both of the other two. Neither
A nor B exceeds 50% whereas o reaches 100% in some South American tribe that have avoided inter
mixture. This suggests that there may be selective force acting to tint the relative frequency of these
alleles.
The highest frequencies of (i) in noted in most of the new world amongst American – Indians, almost
80% the allele is also has high frequency in northern Australia IB in common 5% absent in new world
and Australia IA in rare or absent in south and rental America lrt much more frequent in N. America,
reaching 25% or more in certain tribes & Australia have high frequency, reaching 40% or more.
A board zone stretching from eastern Europe across much of central Asia and reaching part of the
pacific coast have lone I frequencies. On the other hand high IB frequencies are found in a large area
of central cast Asia with a minimum of 25 – 30% in the Himalayan region.
IA frequencies are quite high in Europe, notably in Lapp land and America. The subgroup A2 has much
more restricted distribution than A1, around 10% in much of Europe. However it is in the frequent in
the Lapps and the Finns. The IB frequencies a declines having west ward from central Asia towards
Europe and is notably low in the Basques in United Kingdom, Iceland and the Basques.
The allele I has high frequency among the Sardinians, Berber tribes of the Atlas Mountain and Arabia
in Africa, the IB frequencies are low in Bushman, but much higher in Hottentots.
For the world as a whole, i = 62.5%, A= 21.5% and B= 16.2%
It has been seen that the differentiation nation of human groups accordingly is the blood groups
leads to a classification similar to one based on external physical characteristics. However, there in
often great variability of allele frequencies within each human group.

Sapiens IAS
MENDELISM
THE RHESUS (RH) SYSTEM
In 1940, Landsteiner and weiner distinguished two phenotypes, Rh positive and Rh negative in
human blood Rh positive behaved as a dominant blood inheritance could be attributed to two alleles
Rh and rh, which segregated to produce two dominant types Rh/Rh and Rh/ rh and a recessive rh/ rh
by decrease presence or absence antigen D distinguishes Rh- positive and rh- negative blood types
decrease reaction of anti – D antibodies present Rh – negative mother with the Rh- positive foetus
i.e. death the foetus.
The discovery of additional associated antigens in the Rh – system made fisher put forward a scheme
to explain the genetics of the system. The postulated air Rh genes C,O,E,C,D and E and considered
these genes is closely linked in sets of there, resulting into & gene complex at the Rh locus – CDE,
CDe, CDE, cdE, Cde, CdE, cde, cde.
The recognized anti –D as the original anti Rh serum. The first four of the alone series react as Rh
positive while the remaining four are Rh negative. However, Weiner did not accept the theory of
linked genes and preferred to regard the Rh system is controlled by a series of alleles at a locus with
complex effect.
The Rh system also represents multiple alleles like the ABO group and in this useful for ethnic
studies. The Rh system with its eight haplotypes and variety of alleles at each locus gene great scope
for normality.
In Europe Rh (-) frequency in found to the around 16% with a corresponding or gene (cde) frequency
as 40%. However Basques have (-) frequency up to 30% with corresponding cde frequency between
50-60 % this variant in unusual low in sardinians.
Around the Mediterranean, cde is relatively low and CDe (R1) is high. A similar pattern in found in
northern India. The African date suggest that the frequencies CDe (Ro0 are high.
The allele Cde (r) rare in Chinese, Burmese and Siamese while CDe (R1) in quit frequent. In the
Australian aborigines , cde is rare or absent lust Cde (RoOin high. In the new world cde in absent in
most American Indians. They have a high frequency of CDE (R2).
CAUCASOIDS – IA2, IA1, high frequency of r
NEGROIDS – IA2, high Ro
ASIAN MONGOLOIDS – absence of IA1, high R1
AMERICAN INDIANS – absence of IA2, IB & r
AUSTRALOIDS– absence of IA2, IB & & r
BASQUES – lone IB, high r

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MENDELISM
IMMUNOGLOBULINS AND GM ANTIGENS
An immunoglobulin such as IgG contain two high or I chains and two heavy or H – chains. The first
110 or so amino acids in both L- and H- chain differ strikingly from molecule to molecule this is
known as the variable region and in it the high specialty of the antibody. The remaining lengths of
both the L- and H – chains are much more similar from molecule to molecule and constitute the
constant regions are concerned with the general effector function of the molecule such as
complement fixation and placental transfer variation in the constant region accounts for the major
classes of the immunoglobulin.
Gm specificity are associated with the constant region of the Y- chain particularly YG1, YG2 and YG3.
The Gm specificity is are an example of genetic variation of antibodies between individuals since
antibodies they represent antigens to individuals who do not have them and elicit antibody
formation there Gm was first recognized through the varying capacity of sera from different people
react with a factor found in rheumatoid arthritis patients.
The basis for some of Gm specifities is known, thus molecules of IgG, positive for Gm (1) have
different amino acids in Gm 1 negative molecule.
Gm (1) positive and negative segregated is expected for traits determined by a pair of co -dominant
alleles. However testing for different factor in a Gm molecule several that some are transmitted
together groups. There factor therefore must be produced by different lvi the less are personably
closely linked since other combination which could arise from crossing over are seldom found in a
given population since the combination of Gm factors are evidently transmitted by segments of
DNA containing more than one gene they can be called in haplotype. It indicates a set of factor
regularity transmitted together by the haploid chromosomes set of gametes.
The using for many factor increases the power of Gm studies for distinguishing between population
for e.g. Gm (1,5) occurs in many parts of the world, but when additional factors are examined it is
sun to include four different haplotypes in Africa and a different combination in eastern Asia and
Ocenia.
There are same striking differences between the indigenous people of major.

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COMMON GM HAPLOTYPES IN VARIOUS
POPULATION TESTED FOR NINE FACTORS
Geographical areas and in some cases between population living in the same area certain haplotypes
are frequent in same population living rare or mutually absent in others for e.g. Gm (3, 5, 13, 14) in
common in mongoloids but rare or absent elsewhere. There are four haplotypes that attain high
frequencies in Negroids or population derived from them. It is interesting that about 10% of Gm (1,
5, 13, 14, 17) an African haplotypes on found in Kurdish genes of long and about 2% in Ashkenazi
jews. The Bushman have a deviant pattern including are haplotypes, Gm (1, 5, 17) that is peculiar to
them. They also have another haplotypes Gm ( 1, 13, 17) that in found eastern Astatic people, but is
not otherwise characteristic of Africans.
The table gives a broad view of regional contrasts in Gm haplotypes, but conspicuous frequency
variation have also been observed in more restricted areas. A chinal increase in Gm (1) in parsing
north wards in Europe was noted some years ago there in a good deal of local variation in
haplotypes frequencies in new Guinea in the Markham valley area, the frequency of certain Gm
haplotypes are correlated with the linguistic division between Melanesian and non – Austronesian
speaking tribes. This evidence tends to support. The view that the former came from south –east
Asia.
Steinberg studied the ainus of Hokkaido who have haplotypes Gm (2, 17, 21) peculiar to themselves,
and concluded that ainus had about 30% of Japanese admixtures.
The Gm haplotypes frequencies shows quarter contrast between narrow population than other
genetic markers despite gene flow and recombination tending to disrupt linkage associations strong
regional forces are an obvious but yet speculative answer. The suffusion that certain haplotypes are
associated with antibodies that are affective against particular disease is attractive but improved.
FERTILITY:
The term fertility refers to the occurrence of live births in a given population. Fertility rate in the
number of birth per year per 1000 females, aged between 15 & 44years. It is in the main

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determinant of population growth. It is however subject to greater short term fluctuation and in
determined by a wide range of social economic psychology and physiological factors.
The physiological factors influencing factors are similar to those of fecundity. They are biological
limits for a woman to conceive again after a birth. It may depend upon the extent of breast feeding
or location nutrition and general health of a population also affects the fertility rate. The social
customs and taboos are an important determinant of fertility rate in a population concepts of
marriage, monogamy or polygamy variation in the average age of marriage as well as religious
prescription have important bearing upon the fertility rates e.g. many religious of the world are
opposed to birth control hence strongly religious communities have high fertility level. Social factors
like level of education also affect level of fertility. The more educated people especially the middle
class have higher aspirations and have less children medical facilities available to a population affect
the fertility level. There is little evidence to suggest that ecological factors has any direct bearing
upon fertility however, people living in high altitudes are an exception who exhibit feeble
reproductive capacity.
NATALITY:
Natality is the measure of birth rate of a population, i.e. number of live births per year per 1000 of
the population. The factor affecting Natality is similar to those influencing fertility.
MORTALITY:
The term mortality is used to describe the occurrence of death among a defined population. The
mortality rate or the death rate is often calculated as the number of deaths per year per 1000 of
population.
The physiological factors that affect mortality in a population could be genetic susceptibility to
certain disease and congenital disease. The general health and nutrition of a population also
determine its mortality rate. However, medical progress and improved health services have reduced
their influence in mortality.
SOCIAL AND CULTURE:
The general infrastructure of society and better civic amenities also reduce the mortality. The level
of education and economic prosperity in a society is also determines the mortality, poor and
uneducated segments of a population usually have a higher mortality rate. The social customs like
female infanticide have an adverse impact on the mortality rate of a population.
The hazardous physical and climatic condition like cyclone and volcanoes of a region increase the
mortality of a population. The tropical regions are usually prevalent with various kinds of disease.
Recently environmental pollution has become another ecological determining the mortality of a
population.
The medical technological and social advancements have reduced mortality to considerable levels. A
concomitant decline in fertility levels is necessary to check the population growth and stabilize the
population.

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BIOLOGICAL CONSEQUENCES OF POPULATION CONTROL
The government of India initiated the idea of family planning in 19551.one of the main objectives of
the subsequent policies and programme has been to control population growth and stabilize the
population.
The control of the birth rate was to he achieved among other methods by promoting the use of
contraptions however the contraceptive methods did have a favorable response from the people
done to health concerns and side effects of contraceptives. The health concerns are exposed with
quarter frequency against the use of three most frequently used methods i.e. pills ID and
sterilization.
Extensive epidemiological research has produced a detailed understanding of the prevalence and
significance of the major and minor effect of contraceptive methods
There use can create potentially life heating health effects. These include cardiovascular
complications of the pill; pelvic inflammatory disease nature perforation and anemia for IVD and
various affected associated with sterilization and other methods. Non threading but observable
physiological effect of contraceptive methods occur much more frequency and are particularly
important to women’s decision making and thus judgment that method are safe or harmful. These
effects include nausea headache and weight gain for the pill; increased weeding and expression for
the IUD; menstrual changes for implants and injectable and irreversibility for sterilization.
The adverse physiological effect of the contraceptives has resulted in their rejection by large
segments of population and has hundred the control of population growth and social development.
It becomes necessary for the government to introduce safer and more reliable contraceptive
methods to achieve the aims of the population policies.
DEMEGRAPHIC THEORIES
There are various demographic theories which explain the growth of human population. These
theories are relevant is the context that they explain the varies causes behind population growth
and can be used to suggest measures for population control the demographic theories can be
classified into:
Biological – These theories stall the influence human population one similar to those regular the
growth in numbers of plants and animals for human fertility is inversely proportional to protein
intake.
Cultural – These theories emphasis the influence of people’s cultural and character on the
demographic growth. For e.g. the declining counties is associated with a desire for higher social and
economic status.
Economic – these theories emphasis the importance of economic factor, totally the demand for
labour as being the essential influence on demographic growth.
MALTHUSIAN THEROY OF POPULATION GROWTH
Robert Thomas Malthus published his population theory in 1798 in an essay principle of population.

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According to this theory human population if unchecked tended to increase at a geometric ratio
white substance increased at an arithmetic ratio. The theory maintain that the power of population
is greater than power in the earth to produce subsistence for man. Therefore population growth is
controlled by the lined mean of substance. The increase in population makes condition of life severe
and the death rate uses tall it equals the birth rate. Thus population equilibrium is maintained by
positive Malthusian checks of famine, misery pestilence and war Malthus also recognized preventive
checks like moral restraint delay in marriage and ‘vices’.
Malthus ideas were criticized for confusing between scientific and moralist approaches and the
theory proved to be a poor predictor of events. However, his ideas hold some relevance today in the
form of neo – Malthusian theory.
DEMOGRAPHIC TRANSITION THEORY (THOMPSON NOTESTEIN THEORY)
This theory was put forward by Thompson and Note stein. It is a temporal theory based on the
trends in fertility, mortality and natural increase experienced in developed countries.
It suggests four phase in growth of human population.
1. High Stationary Phase:
In this phase both birth rate and death rate are high and consequently the growth in population
remains at a low fluctuating level.
The fluctuations are caused by erratic changes in the death rate due to famine was epidermis etc.
certain parts of African countries are going through this phase.
2. The Early Expanding Phase:
The birth rate continues to be high but the death rate declines sharply to due improved nutrition
better medical and sanitation facilities and political stability therefore population grows at an
various developing countries are going through this phase.
3. Late Expanding Phase:
The death rate stabilizes at a low level. The birth starts reducing steadily as the society gets
industrialized and urbanized consequently the growth rate of population is solved down tg china.
4. Low Stationary Phase:
Both birth and death rate stabilize at a low level. The growth rate becomes stationary at a high level.
However, some fluctuation in birth rate can be seen which can be related to the market economy
e.g. W, Europe. The demographic transition theory then explain modern demographic history in
turns of multi phasic response.
DIGRAM OF TRANSITION THEORY
PHYSIOLOGY FCTORS SOCIAL FACTORS ECOLOGICAL FACTOR

susceptibility to disease Infrastructure medical facilities Hazardous environment
congenital disease, genetic custom like male infanticide prevalence of disease pill

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abnormalities, health and level of education

nutrition
This theory postulates that the increase in the population’s natural growth creates a series of
response delayed that marriage increased celibacy, abortion contraception and overseas and rural –
urban migration designed to maintain population’s rising prosperity (G.N.W. European countries and
Japan).
Fig. Demographic transition

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MENDELISM
BABY BOOM POPULATION CYCLE (FUTURE POPULATION CYCLE)
If socioeconomic condition are conducive to a lowering of the age of marriage or reduction in the
spacing of births, if birth rate raise rapidly while death rate remains at a relatively lower len
eventually the birthrate declines and relative stability established, but in the meantime there will be
a boost in the size of overall population.
Fig. Baby boom population cycle
BIOLOGICAL FACTORS & SOCIO – ECOLOGICAL FACTORS INFLUENCING FECUNDITY, FERTILITY,

NATALITY AND MORTALITY
1. FECUNDITY:

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Fecundity is a biological term impressing the physiological capacity of female a population to

produce live born children. A woman’s fecundity varies according to a normal cycle related to the
rhythm method of birth control. The cycle is absent during pose birth period and it is not possible for
the women to conceive. The length of this period of infecundity may depend on the extent of
location. It also depends on the social norms or taboos concerning intercourse following a birth
besides the rhythm method of birth control other birth control methods abstinence, coitus
interruptus appliance methods and contraceptives in some married couples one partner or the other
may be in fertile affecting the fecundity but the percentage of such couples to when children cannot
he born relatively small in population.
However fecundity is not an appropriate method for studying the population growth and other
demographic processes. This is due to the fact that there is a vast difference between a women’s
actual fertility and the maximum number of children that i.e. physiologically possible for her to bear.
Hence it does not show the actual number of children born in a population.
APPLICATION OF ANTHROPOLOGY
1996 (20) – Forensic Anthropology
1997 (20) – Anthropology of sports
1997 (60) – Discuss the concepts of eugenics & their potential application to human welfare
1997 (60) – Discuss the recent development in genetic techniques & comment upon their potential
social significance
1999 (60) – Discuss the application of human genetics in the field of forensic – SC & diagnosis &
treatment of genetic disorders
2003 (20) – Forensic anthropology
2003 (20) – Eugenics
2003 (60) – what do you understand by applied physical anthropology discuss the application of
anthropometry in designing defense & other equipment
2004 (20) – Anthropology of sports
2004 (60) – Discuss the areas in which the knowledge of human genetics can be applied
2005 (20) – Nutritional anthropology
2006 (20) – Personal identification
2007 (20) – Forensic anthropology
2008 (20) – Briefly describe various application of physical Anthropology

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2009 (60) – Analysis the various application of physical anthropological knowledge to solve medico
….legal problem & reconstruction of evidence
2010 (15) – Role of forensic anthropology in the field of personal identification
ANTHROPOLOGY OF SPORTS
(KINENTHROPOMETRY)
INTRODUCTION:
Knowledge & wisdom of physical anthropology in body build physical, hereditary background &
correlation between environment & other aspects of human life could be fully utilized in sports to
reap the optimum benefits in desired dissection. Thus anthropology in sports can contribute to make
a better team at national & international level by reducing cost & time.
BASIC PHILOSOPHY:
Heredity is the basic architect but the environment factors can reshape it to the best suited manner
for a particular sports events. Environmental factors include physical activities education, nutrition &
designing of sports article. Thus, right combination of heredity with environmental is very much
important for sports.
OBJECTIVE:
Includes to select right individual for a particular sport & thereby formation of the best team, to
reduce cost & time.
To create health awareness among the general masses.
METHODS:
Anthropologist have studied Olympics, national & international sports events besides renounced
sports person & their somatotypes & way of life, which give immense insight. Therefore physical
anthropologist came out with following prescriptions;
1. Right kind of individual should be encouraged to take up right kind of sports. E.g. taller individual
for basketball for that purpose a table is given below;
HIGHT CATEGORY WEIGHT CATEGORY SUITABLE FOR EVENTS

TALL Heavy Wrestling
Medium Boxing
Light Sprinting jumping
MEDIUM Heavy Throwing

Medium Long Dist Swimming
Light
SHORT Heavy Weight lifting

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Medium Gymnastics
Light Skating
2. To test the aptitude of the concerned person for particular events of sports.
3. Taking into according nutrition, physical condition & other socio – cultural factors.
4. Redesigning sport article to suit particular body size.
ACHIEVEMENT:
1. As a result of kinenthropometry, the world of sport has got excellent accomplishment at

international, national & even at local level.
2. With the redesignment of hockey sticks among other things by Sachindra Narayan the
Chhotanagpur boys become national champion in 1995.
CONCLUSION:
Thereby its contributes to the sports world is undoubtful. However lack of awareness recognized of
knowledge & financial constrains in developing countries in general, its contributes is hardly visible.
(+) Positive & (-) positive eugenics can be accomplished by following means;
VARIOUS MEANS OF EUGENICS:
1. ASSORTATIVE MATING:
It means encouragement of some desirable gene e.g. – tallness is preferred to Dwarf ness or whit
complexion is perfected to dark complexion.
CONSEQUENCES:
Whether white complexion is better or dark complexion is worse is determined by the environment.
If human population does have only one kind of skin colour e.g. white, it may have immense harm to
the population even to the extent of extinction under changing environmental conditions.
2. WHOLE ANIMAL CLONING:
Cloning an individual means reproduction of individuals asexually, which can be done in the
following ways;
SOMATIC CELL NUCLEAR TRANSFER TECHNIQUE:

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Fig. CLONING
Cloned human beings can be used for organ transplantation dry try ling & understanding molecular
events of cellular differentiation.
3. GENE THERAPY:
It involves replacement of incorrect genes by correct gene with the help of rDT/ G.E. it can cure
heredity disease but may lead to reduction in genetic diversity.
4. rDT:
It means combining DNA from 2. Diff sources for commercial purposes.

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Fig. MECHANISM OF rDT
UTILITY: (rDT)
It could increase the understanding of cancer & other diseases.
Bacteria can be created which can act as producers of needed chemicals such as hormones & Ab.

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Another possible application could be introduction of genes into crops; that do not need ‘N’ Hence
eliminating the need of nitrogenous fertilizers.
PROBLEMS OF EUGENICS:
1. DYSGENIC EFFECT:
If the disease is simply controlled phenotypically e.g. – treating Haemophilia with artificially
synthesized factor VIII or IX, the genetic factor is even propagate further. This is a dysgenic effect i.e.
a tendency to increase the frequency of the disease. The safest way to handle genetic disease is to
eliminate the lethal allele by altering the DNA molecule itself. It would be impossible to eliminate
specific disease totally. This is because of mutations which are always occurring.
2. RED’N OF VARIABILITY:
Another possible danger of eugenic attempt is the red’n or variability in a population certain
metabolic effects of blood disorder e.g. sickle – cell anemia which could conceivably have beneficial
effects, if environment shifts also alleles which are deleterious in the homozygous state may confer
adaptive advantage in the heterozygote e.g. sickle – cell anemia & malaria.
3. RACISM:
It actually can be an application of eugenics. It a people in power decides that other are inferior /
undesirable then they might in the guise of improvement practice (-) positive eugenics against these
people.
4. ELITISM:
Another potential danger of eugenic is the certain of a biological elite soldiers artists or clerks could
be bred to create an elite group of people. This elitism could be ultimately result in big brotherism.
CONCLUSION:
FORENSIC ANTHROPOLOGY
INTRODUCTION:
Forensic anthropology (FA) employs every means to identify a person through anthropologically
significant marks or remains of his / her body how so ever a trivial one. These are various relative &
absolute means to identify a person including finger printing, identification through blood types
bone & tooth DNA finger printing etc.
AIM & SCOPE:
It aims to identify human being either relative or absolutely. Its scope includes;
i). Established the identity of a person at some situation.
ii). To identify of a person parentage.

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iii). To identify a person at the site of accident.
iv). To identify person as a follow up measures in immigration laws.
AREAS OF OPERATIONS:
1. STUDYING FINGER PRINTS:
Anterior surface of our finger bear unique ridge so that they leave a unique pattern of such friction
surface, when they come in contact with some surface. The study finger print involves following
methods in the order given;
i). Obtaining a finger print.
ii). Identification of ridge pattern.
There may be 75-100 ridges characteristics…………………………………………………………..
To establish identity minimum of eight characteristic pattern of ridge is essential.
2). IDENTIFICATION THROUGH SKELETON & TOOTH:
A. FOR BONE:
i). Establishing whether the bone belongs to human beings or not by using comparative anatomy. If
blood is available then by blood typing no of person can be counted. After the identification of bone
as a human bone following steps to be taken;
ii). Identifying whether the bone belongs to male or female sex by using various characteristic of
skull & pelvic bones.
B. FOR TOOTH:
i). On the basis of wearing pattern, periodontosis , secondary dentine, cementum opposition, root
transparency sex & age of human being can be identified.
3. BLOOD TYPING:
On the basis of blood typing it can be said that who is not the father, but it cannot be said who is the
father e.g. – if the blood group of child is ‘O’ then the people with AB cannot be said to be as father.
4. DNA FINGER PRINTING:
Every human being has unique sequence in its DNA. These sequences are called short nucleotide
repeat sequences. These are also k/a VNTR (variable no tandem repeats). On the basis of VNTR, DNA
– FP of human being can be prepared which help in establishing identity of a person.
These VNTR are heritable means offspring obtain some VNTR from father & some from mother. At
the same time it develops its own VNTR due to recombination of genes during gamete formation.
SIGNIFICANCE:

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1. FA is immensely significant for the purpose of identification of human being. It can ensure quality
health, combating crimes resolving parental disputes & also helpful in the implementation of
immigration laws.
CONCLUSION:
Although ‘FA’ helps in identification of human being however almost all the means of identification
are relative one except DNA fingerprinting. It is DNA fingerprinting which can provide absolute
means of identification.
PATERNITY DIAGNOSIS
INTRODUCTION:
Physical anthropological knowledge can help in the settlement of disputed parentage which has
socio – economic implication. There are so far two methods which have been developed such as
exclusion & inclusion methods which are useful for the establishment of biological motherhood &
fatherhood.
METHOD:
1. EXCLUSION:
It is based on the blood group typing e.g. ABO, MN, Rh depending upon the situation only one typing
is sufficient, since all the systems follow the same Mendelian principle of heredity. The application of
ABO blood group to solve disputed parentage is illustrated below;
MATING CHILD WITH POSSIBLE BLOOD IMPOSSIBLE BLOOD GROUP IN

GROUP THE CHILD
O//O X O//O O A, B & AB
O// O X O//A O, A A, AB
O// O X O//B O, B A, AB
A//A X A//A A B, AB, O
B//B X B//B B A, AB, O
A//A / A//O X A//B A, B, AB O
B//B / B//O X A//B B, A, AB O
A//O X B//O A, B, AB, O -
Thus, this method cannot say who is actual father but can say who is not so it comes under method
of exclusion.
2. INCLUSION METHOD:
It is based on DNA – FP which is a unique technique for identification of individuals distinctively. The
idea behind DNA – FP is to distinctively one person from other by knowing unique genetic
constituents of every individual. This done with the help of SNR (short nucleotide repeat) in every

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gene which are heritable. These are also k/a VNTR. The VNTR of two person may be of the same
length & sequence at certain sites but definitely vary at other sites, thereby ensuring uniqueness.
On the basis of inheritance pattern of VNTR, since some VNTR comes from father & other comes
from mother; paternity can be diagnosed absolutely. Besides DNA- FP there is bright future for
paternity diagnosis which certainty as and when complete HGP is accomplished.
CONCLUSION:
Exclusion method is a relative technique whereas inclusion method are absolute technique for
resolving paternity disputes. Thus the knowledge of physical anthropology can ensure peace & order
social control in human being.
ANTHROPOLOGY IN DESIGNING OF DEFENSE & EQUIPMENTS
INTRODUCTION:
Anthropometry, the sub – branch of physical anthro…. Can provide data foe designing of workplace,
clothing & personal equipment, component & personal equipment component & devices which can
promote efficiency, comfort & thereby ensuring optimum productivity.
ANTHROPOMETRY & PRINCIPLE OF DESIGNING:
Anthropometry is concerned with the measurement of human body. Anthropometric surveys

provide information on the range & variation of body shape size & fit. These are significant issues
because they can substantially affect the utility of equipment clothing or workplace.
All these designs are based on statistical measurement of range & variation of human body shape
size & fit. It is percentile of the normal distribution curve white designing for clearances. It is always
the highest percentile & when reach is crucial, it is always the lowest percentile.
DESIGNING EQUIPMENTS:
Design requirements may be classified into three groups;
1. Workplace design
2. Clothing & personal equipment design
3. Component & devices
WORKPLACE DESIGNING:
Includes designing of any space for human occupancy during work, recreation, rest, education,
travel, treatment etc. The designing aims to ensure that operator has adequate work – space proper
location of controls displays & devices (Malik et.al - 1991) e.g. designing of aircraft’s cockpit,
automobiles, interior, gun turret, & tunnel etc. are some of the example where work space designing
is needed.

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The measurements required in designing includes reach limit body clearance eye location etc.
CLOTHING & PERSONAL EQUIPMENT DESIGN:
Include designing of garments space – suits, helmets; gloves etc. the designing of such things must
assure proper fit minimize restriction of movement. The body measurements that is generally
required for this purpose includes circumferences, body - contours, limbs – movement.
COMPONENT & DEVICES:
With the help of anthropometric data various defense equipment’s & devices can be designed so
that efficiency of the devices is maximized e.g. computer key – board which suits every Indian.
CONCLUSION:
METHOD & PRINCIPLE OF PERSONAL IDENTIFICATION & RECONSTRUCTION
INTRODUCTION:
There are many devices or technology for reconstruction & identification of an individual such as
reconstruction is done on the basis of stature and identification is done on the basis of blood typing
bone & teeth DNA – FP.
RECONSTRUCTION:
Can be done by;
1. ANATOMICAL – METHOD:
Involves in simply, putting the bones together reproducing the curves of spines & measuring their ht.
after estimating the allowances for cartilage & external tissue in proper calculation. It has certain
advantages i.e. it yields more accurate estimates of stature & smallest standard deviation. However
it could be used only if a complete skeleton is available.
2. MATHEMATICAL METHOD:
It is based on the proportion of certain bones to the ht. it has certain advantages i.e. even if a single
bone is available for examination.
NUTRITIONNAL ANTHROPLOGY
INTRODUCTION:
Nutritional anthropology or anthropometry is to define the nutritional status of person with the aid
of anthropometry various recommendations for such assessment has been made by WHO working
group 1986. It is based upon the combined action of gene & environment with the help of nutritional
anthropometry growth & developments of human population can be studied.

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BASIC PHILOSOPHY:
Growth & development are the result of action both heredity & environment. It is maintained that
the same genotype is capable of diff growth potentialities in diff environment. This is the under
trying assumptions for use of anthropometry in nutritional assessment of population.
INDEX OF NUTRITIONAL ANTHROPOMETRY:
The basic measurement in nutritional anthropometry are age (A), weight (W), & height (H). A
measurement alone e.g. wt. does not give any meaning until it is related to another measurement
e.g. age over the ht. thus we get index such as wt. for ht. or ht. for age.
METHODS OF NUTRITIONAL ANTHROPOMETRY CONCEPT OF REFERENCE POPULATION:
The reference population for assessment can be international, such as one by national Centre for
health statistics (NCHS) which widely used as international reference population or it can be national
through these are many limitations including international reference population yet NCHS data is
much in use for nutritional assessment of children.
INDEX & NOMENCLATURE FOR DEFICIT IN INDICES:
There are mainly four indices. The 1st three commonly used for children & last for adult for children
three indices widely used are;
i). Wt for Ht – Deficit in this index is k/a wasting.
ii). Ht for age – Deficit in this index is k/a stunting.
iii). Wt for age – Deficit in this index is k/a under wt.
There exist geographical variations in three indices
BODY MASS INDEX (BMI)

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This is an index of wt per ht2 (W/H)2 in which wt is taken in gms & ht in cw2 studies indicate that
body mass index of three or above associated with extra risk to life because of heart disorders,
diabetes etc.
Those with extremely low values of BMI have higher incidence of infections disorders or ill health.
The BMI for man & women differ. It has been proposed to be 2.5 for males & 2.4 for females (royal
college of physicians) & 2.78 for males & 2.73 for females (NCHS – Data).
CONCEPT OF INDICATOR & CUT – OFF POINTS:
As index is simply a no indicator which represents use of index with cut – off point for making an
assessment. Thus wt. for ht. with a cut – off a 80% of the reference is an indicator of wasting to
illustrate three feet tall boys in a population wt. between 20 & 33 kg. The reference pt for the same
ht. may indicate a median of 30 kg 80% of this reference come to (24) 13X80/100. Thus 24 is the cut
– off point of all boys below 24 kg should be considered as wasted.
CUT – OFF POINTS IN RELATION TO THREE BASIC INDICES
CONCLUSION:
Thus nutritional anthropology or anthropometry can indicate nutritional status or degree of

malnutrition. Nutritional anthropology also shows differential growth & development among diff
communities or communities of nation which indicate human variation from place to place.
DEMOGRAPHIC THEORIES BIOLOGICAL SOCIAL & CULTURAL
INTRODUCTION:
There are various demographic theories which explain the growth of human population. These
theories are relevant in the context that they explain the various causes behind population growth &
can be used to suggest measures for population control.

Sapiens IAS
MENDELISM
MEANING OF GROWTH:
Population growth or dynamic means either increasing or decreasing of population. There are three
factor which are responsible for population growth such as birth, death & migration (immigration &
emigration) for increasing population growth, high birth rate & Immigration are responsible,
whereas for decreasing growth death & emigration is responsible. These three factors are
determined by biological & socio cultural features.
BIOLOGICAL THEORIES:
This theory states that the influence on human population are similar to those regulating the growth
in no of plants & animals e.g. human fertility is inversely proportional to protein intake.
CULTURAL THEORIES:
This theory emphasizes the influence of people’s culture & character on the demographic growth
e.g. the decline in fertility of economically advance countries is associated with a desire for higher
social & economic status.
ECONOMIC THEORIES:
This theory emphasizes on economic factors notably the demand for as being the
essential influences as demographic growth.
MALTHUSIAN THEORY OF POPULATION GROWTH:
Robert Thomas Malthus published his population theory in 1798 in an essay on principles of
population. According to this theory human population of unchecked tended to increase at a
geometric ratio while substance for resources increased at an arithmetic ratio. The theory maintains
that the power of population is greater than power in the earth which could produce subsistence for
man population growth is controlled by the limited means of substance. The increase in population
makes conditions of life severe & the death rate rises till it equals the by (+) positive Malthusian
checks of famine, misery, pestilence & war. Malthus also recognized preventive checks like moral
restraint delay in marriage & vices.
CRITICISM:
Malthus ideas were criticized for confusing between scientific of moral approaches & the theory
provide to be a poor predictor of events. However his ideas hold some relevance today in the form
of Neo – Malthusian theory.
DEMOGRAPHIC TRANSITION THEORY:
This theory was put forward by THOMPSON & NOTESSTEIN. It is a temporal theory (in terms of
time), based on the trends in fertility, mortality & natural increase experienced in developed
countries. It suggests four phases in human growth population.

Sapiens IAS
MENDELISM
Fig. DEMOGRAPHIC TRANSITION
i). 1st – PHASE (HIGH STATIONARY):
In this phase both birth & death rate are high consequently the growth in population remains at a
low fluctuating level. The fluctuations are caused by erratic changes in the death rate, due to famine,
war, epidemics etc. certain parts of African countries are going through this phase.
ii). 2nd PHASE (EARLY EXPANDING):
The birth rate continues to be high but the death rate declines sharply due to improved nutrition,
better medical & sanitation facilities & political stability i.e. population grows at an increasing rate
various developing countries are going through this phase.
iii). 3rd PHASE (LATE EXPANDING):
The death rate stabilizes at a low level & the birth rate starts reducing steadily, as the society gets
industrialized & urbanized. Consequently the growth rate of population is slowed down e.g. – China
& India.
iv). 4th PHASE (LOW STATIONARY):

Sapiens IAS
MENDELISM
Both birth & death rate stabilize at a low level. Hence the growth rate becomes stationary at a high
level. However some fluctuations in birth rate can be seen which is related to mkt. economy e.g.
West – European nations.
The demographic transition theory thus explain modern demographic history in terms of multi –
phasic responses.
BABY BOOM POPULATION CYCLE (Future population cycle):
It socio – economic conditions are conducive to a lowering of the age of marriage or red’n in the
spacing of birth, the birth rate rises rapidly while death rate remains at a relatively lower level.
Eventually the birth rate declines & relative stability is restablished; But in the meantime their will be
a boast in the size of overall population.
CONCLUSION:
Thus all these theories talk about the reason behind increasing or decreasing of population size
which can be helpful for taking measures in order to stabilize population growth.

Mendelism

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Sapiens IAS

EXPERIMENTS CONDUCTED BY MENDEL:

A.) MONOHYBRID CROSS:

P YELLOW ROUND SEED X GREEN WRINKLED SEED

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GGWW GGWw GgWW GgWw

gw GgWw Ggww ggWw ggWw

EXCEPTION/ ADVANCEMENT OVER LAW OF MENDEL

2. Semi dominance Law of dominance & recessive

5. Pleiotropic one gene one character

6. Genome imprinting > law of equivalence

7. Linkage> law of independent assortment

2. SEME DOMINANCE: (Incomplete dominance)

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4. POLYGENIC TRAIT & PLEIOTROPY:

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SYMBOLS USED IN PEDGREE ANALYSIS: As follows

MALE DIZYGOTIC TWINS

MATING MONOZYGOTIC TWINS

PARENTS & CHILDREN SEX UNSUSPECTED

2, 3 NUMBER OF CHILDEEN OF SEX INDICATED

HETEROZYGOUS FOR AUTOSOMAL RECESSIVES

CARRIER OF SEX LINKED RECESSIVE

! ABORTION OR STILL BIRTH (SEX UNSPECIFIED)

i. NUMBER OF GENERATION & NO. OF INDIVIDUAL IN A GENERATION

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These are following types of pedigree tree as described below:

1. AUTOSOMAL RECESSIVE PEDIGREE:

Here pattern of inheritance may be

2. AUTOSOMAL DOMINANT PEDIGREE TREE:

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FIG. PEDIGREE OF DWARFISM (ACONDROPLASIA)

Here pattern of inheritance may be

i. The condition may appear in every generation.

ii. Unaffected can never transmit the condition to the offspring.

3. SEX LINKED RECESSIVE PEDIGREE TREE:

Haemophilia, colour blindness, Duchene’s muscular dystrophy.

SOME FAMOUS PEDIGREE IN THE WORLD:

i. Dukes of New –York.

ii. Zero family in SZ.

iii. Family of queen – victoria for haemophilic disease.

CHARACTERS WHICH CANNOT BE STUDIED BY PEDIGREE:

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Fig. Structure of Chromosome (IDEAL)

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Fig. KARYOTYPE OF DROSOPHILA (IDIOGRAM)

METHOD OF PREPARATION OF KARYOTYPES: As follows

BANDING TECHNIQUE TO INCREASE

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RESOLUTION& STAINING DIFF.

Method of Karyotype LINKING OF CHROMOSOMES

CHARACTERISTICS OF THE CHROMOSOMES IN THE HUMAN KARYOTYPE

GROUP PAIRS DESCRIPTION

MEDICINE: Described below;

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RECOMBINANT DNA TECHNOLOGY (RDT)

TECHNOLOGY: Is describe below;

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Fig; rDNA TECHNOLOGY

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rDT can benefit to almost all areas of human life e.g.

a) Monoclonal –Ab are likely to be used to vaccinate against malaria.

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2. TRANSGENIC PLANTS & ANIMALS: