INDU

IM A B
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 INDU
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• Each cell contains 23 pairs of chromosomes.
• First 22 pairs of chromosomes are called Autosomes.
• Autosomes control / determine the characters that care common for
both sexes.

U
• 23rd pair of chromosomes are called allosomes.

IND
• Allosomes are also called as sex chromosomes.
B
HI A
• Sex chromosomes are of two types, X & Y
M
• X is female sex chromosome. It controls female sex characters and
some common characters like color vision, blood clotting, brain
development etc. (Larger)
• Y is male sex chromosome. It controls male sex characters. (Smaller)
• 23rd pair in female somatic cells – XX
• 23rd pair in male somatic cells - XY
• Two copies of the same chromosome are called Homologous
chromosomes.
• Chromosomes from different pairs are called Non homologous
chromosomes.

DU
• X & Y are two chromosomes of the same pair (23rd pair) But they are

IN
B
structurally and functionally different. Therefore, they are called
Heterologous chromosomes.

HIM A
• Hence females have 23 pairs of homologous chromosomes but males
have 22 pairs of homologous chromosomes and one pair of
Heterologous chromosomes (X Y) .
 INDU
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 INDU
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H
 INDU
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• Karyotype: Arrangement of the chromosomes based on their size and
shape.

INDU
• Karyotype analysis: Analysis of the karyotype of an individual to

A B
diagnose any chromosomal aberrations / sex of the individual.

IM
H
• Based on size, chromosomes are 3 types Large, medium and small.
• Based on shape chromosomes are 4 types .
 INDU
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 INDU
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• Cytogeneticists use banding techniques to determine the characteristic
pattern of light and dark bands on a chromosome under a microscope.
By applying specific stains, the banding patterns become apparent.
The different types of banding are Giemsa (G-) banding, reverse (R-)

DU
banding, constitutive heterochromatin (C-) banding, quinacrine (Q-)

IN
B
banding & telomeric (T-) banding.

IM A
• A chromosomal anomaly/ aberration is an error in either the number

H
of chromosomes (Numerical chromosomal aberrations) or shape of
chromosomes (Structural chromosomal aberrations).
• Based on the type of chromosome in which they occur, chromosomal
aberrations can also be classified into Sex chromosomal aberrations
and autosomal aberrations.
 INDU
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 INDU
IM A B
H
 INDU
IM A B
H
Humans cannot tolerate polyploidy. It is believed that 10%
of spontaneous abortions in humans are due to the
formation of polyploid zygotes.

INDU
IM A B
H
TURNER’S SYNDROME / MONOSOMY OF X CHROMOSOME:

Introduction: Described for the first time by Turner.

Cause: Occurs due to the nondisjunction of X chromosomes during

NDU
oogenesis or due to nondisjunction of XY chromosomes during
I
spermatogenesis

IM A B
H
ØTurner’s patients are phenotypically females.
Clinical symptoms: Mental and growth retardation, short stature,
infertility, rudimentary ovaries , poorly developed secondary sexual
characters.
ØThe disease occurs with a frequency of one in 5000 to 10000 born
infants.
 INDU
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 INDU
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Diagnosis:
• The disease can be diagnosed Symptomatically or by the absence of
Barr body (Barr body is the hetero chromatinised or inactivated extra
X chromosome in the female cell nuclei to balance the number of X

U
chromosomes in male and female cells. This phenomenon is called
the dosage compensation).
B IND
• Dermatoglyphic study.

HIM A
• The disease can be prenatally diagnosed by Amniocentesis or
chorionic villi sampling and successively followed by Karyotype
analysis. The karyotype of the turner’s syndrome patients indicate
(45, XO) condition.
§ Amniocentesis :

INDU
IM A B
H
KLINEFELTERS SYNDROME / (47 , XXY ):

ØIntroduction: Described for the first time by Harry Klinefelter.

U
ØCause: Occurs due to the nondisjunction of X chromosomes during

IND
oogenesis or XY chromosomes during spermatogenesis. Extreme

B
A
Klinefelter’s can be caused due to nondisjunction of sex chromosomes

IM
during oogenesis and spermatogenesis.
H
ØKlinefelter's patients are phenotypically males .
ØClinical symptoms: Rudimentary prostate gland, testes, infertility,
Gynaecomastia( enlargement of breast), feminine characters, poorly
developed secondary sexual characters, Growth and mental
retardation.
 INDU
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H
 INDU
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Diagnosis:
The disease can be diagnosed –
• Symptomatically.
• Testicular biopsy indicating poor development.

DU
• Presence of Barrbody which is an unusual character for the male cell

IN
B
nuclei.

IM A
• The disease can be prenatally diagnosed by Amniocentesis or

H
chorionic villi sampling and successively followed by Karyotype
analysis. The karyotype of the Klinefelter’s syndrome patients indicate
(47, XXY) condition. Extreme Klinefelter’s patients also demonstrate
karyotypes of 48 XXXY.
ØSUPER FEMALE/ META FEMALE/TRISOMY 47 XXX
Introduction: The syndrome occurs with a frequency of 1 in 1200 live
female births.
Cause: Occurs due to the nondisjunction of X chromosomes during
oogenesis.

NDU
Clinical symptoms: Poorly developed secondary sexual characters,
I
chances of infertility.
Diagnosis:
IM A B
H
ØThe syndrome can be diagnosed –
• Symptomatically
• Hormone profile indicating imbalance in the estrogen and
progesterone levels.
 INDU
IM A B
H
• Presence of two/three barrbodies unlike a single barrbody which is a

DU
characteristic feature of female cell nuclei.
IN
IM A B
• The disease can be prenatally diagnosed by Amniocentesis or
chorionic villi sampling and successively followed by Karyotype
H
analysis. The karyotype of the super female syndrome patients indicate
(47, XXX) condition.
vSUPER MALE SYNDROME / DOUBLE Y SYNDROME / (
47XYY):

DU
ØThese patients usually have a criminal bent of mind, Aggressive

IN
sterility.
IM B
antisocial behavior, emotional immaturity, Impulsive nature and

A
H
ØThis karyotype ( 47XYY) is usually found among prisoners and
juvenile delinquents.
 INDU
IM A B
H
vPATAU’S SYNDROME / TRISOMY OF 13TH
CHROMOSOME / ( 47, 13+1) :

INDU
Introduction: Described for the first time by Patau etal.

M A B
Cause: Occurs due to the nondisjunction of 13th chromosome During
I
H
oogenesis or spermatogenesis.
Clinical symptoms: Severe mental and growth retardation, Harelip,
cleft palate, sloping forehead
 INDU
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• Polydactyly, abnormal fingerprint pattern or dermatoglyphics,
significant increase in the levels of Foetal haemoglobin, Eye defects,
congenital heart defects, kidney and digestive system related defects
are common.

INDU
Diagnosis:

IM A B
H
• The disease can be prenatally diagnosed by Amniocentesis or
chorionic villi sampling and successively followed by Karyotype
analysis.
• The karyotype of the patau’s patients indicate ( 47, 13+1) condition.
ØDOWN’S SYNDROME / MONGOLISM / MONGOLIAN
IDIOCY/ TRISOMY OF 21ST CHROMOSOME/ ( 47, 21+1) :

• Introduction: The disease was discovered by J.Langdon Down

INDU
• Lejeune etal demonstrated that Down’s have 47 chromosomes instead
of the normal 46.

IM A B
H
• It is the most common chromosomal aberration because 21st
chromosome is the shortest chromosome and thus its abnormality is
not lethal.
• The incidence of the disease increases with the age of the mother with
more chance of incidence above the maternal age of 30.
 INDU
IM A B
H
 INDU
IM A B
H
• Cause: Occurs due to the nondisjunction of 21st chromosome During
oogenesis or spermatogenesis.
• Symptoms:
Short stature, Weak muscles , Short & wide neck.

DU
Ø

Ø Short, stocky arms and legs.

A B IN
Ø

Ø HIM
A nasal bridge that looks pushed in.
Heart defects, Hypothyroidism .
ØRespiratory infections, hearing problems, or dental problems.
ØDepression or behavior problems associated with autism.
ØIntellectual disability. Most children with Down syndrome have mild
to moderate cognitive disability.

INDU
A B
ØDiagnosis: The disease can be prenatally diagnosed by Amniocentesis

IM
H
or chorionic villi sampling and successively followed by Karyotype
analysis. The karyotype of the Down’s patients indicate ( 47, 21+1)
condition.
ØEDWARD SYNDROME / TRISOMY OF 18TH CHROMOSOME
/ ( 47, 18+1):

Introduction: Described for the first time by Edward etal.

NDU
ØThe disease occurs with a frequency of one in 2200 live births.
I
A B
Ø95% of the foetuses with this disease gets aborted. Of the live births

IM
H
most of them die with in 10 years.
ØCause:
Occurs due to the nondisjunction of 18th chromosome During
oogenesis or spermatogenesis.
 INDU
IM A B
H
• Clinical symptoms: Severe mental and growth retardation, Harelip,
cleft palate, triangular mouths, congenital heart defects and defects
related to skeletal system and nervous system like Spina bifida and
spina bifida occulta.

INDU
IM A B
H
• Diagnosis: The disease can be prenatally diagnosed by Amniocentesis

DU
or chorionic villi sampling and successively followed by Karyotype

IN
B
analysis. The karyotype of the Edward’s patients indicate
47, 18+1.
HIM A
vCATS CRY SYNDROME / CRI –DU –CHAT SYNDROME /
MONOSOMY OF 5TH CHROMOSOME/ (45,5-1):

DU
Introduction: Reported for the first time by Lejune etal.

IN
A B
ØComplete monosomics usually donot survive till term, but gets

IM
aborted.
H
Cause: Cats cry syndrome is due to the loss of only the short arm of 5th
chromosome.
Clinical symptoms: Microcephaly

U
( Unusually small head), Cry like a mewing cat, mental and growth
retardation etc.

B IND
HI A
Affected neonates are of low birth weight, hypotonic, a round face with
M
wide-set eyes, a broad-based nose. The ears are low-set, abnormally
shaped, Syndactyly, hypertelorism, and heart anomalies occur often.
Many affected children survive into adulthood but are very disabled.
 INDU
IM A B
H
• The disease can be prenatally diagnosed by Amniocentesis or
chorionic villi sampling and successively followed by Karyotype
analysis.

INDU
IM A B
H
GENOME STUDY :
Genome – Haploid genetic content of a cell.
Human Genome Project :

INDU
• It is an International Scientific research project with a primary goal of

B
determining the sequence of the DNA in the complete human genome.

IM A
• The project began in the year 1990.
H
• JAMES D WATSON was the head of National Centre for Human
Genome Research at National Institute of Health in the United States.
• Starting from the year 1988, he was replaced by FRANCIS COLLINS
in the year 1993.
• Name of the centre was changed to “National Human Genome
Research Institute (NHGRI)” in the year 1997.
• Complete genome sequence was published in April 2003.
• Equipments Used : DNA Sequencers.

INDU
Observation or Findings :

IM A B
H
ØThere are approximately 30000 genes in the complete gene.
30000 genes / 23 Chromosomes.
30000 gene pairs / 23 Pairs of Chromosomes.
30000 genes / 1 Genome.
ØMore than 95% of human genome contains Junk DNA .Junk DNA
reduces the probability of the genes getting mutated,it acts as a
reservoir genetic material so that mutations in junk DNA forms new
genes that are needed for evolution.Therefore mutations are the raw
material for evolution.

DU
ØAround 50% of the genome contains jumping genes or transposable
IN
elements.

IM A B
ØChromosome 19 has the highest gene density while chromosome 13
H
has the lowest gene density.
ØLargest known human gene is DYSTROPHIN gene.
ØUp to 99% of the DNA is common in all human beings belonging to
different religious,castes,regions & races indicating no molecular
inequality between humans.
vApplications/Advantages :-

INDU
ØIt provides clues to the understanding of human genetics.

M B
ØIt helps in the development of new DNA technologies like
A
designer embryo, designer baby etc.
I
H
ØIt helps in the technologies like gene cloning, gene therapy,
genetic engineering ,gene editing, bio-informatics,
pharmacogenomics etc.
GENOME ASIA 100K :-

INDU
ØIt is a recent genome project launched in the year 2017.

B
ØIt aims at sequencing the genomes of 100K humans from

HIM
among Asians. A
different countries of Asia to study the genetic diversity

ØMaximum human diversity is found in Asia.

9.4.5.B. GENOMIC IMPRINTING IN HUMAN DISEASE :
ØGenomic imprinting is a genetic phenomenon by which
certain genes are expressed in a parent-of-origin-specific
manner.

DU
ØGenomic imprinting is an epigenetic process that involves
IN
IM B
methylation and Acetylation.
A
ØAppropriate expression of imprinted genes is important for
H
normal development, with numerous genetic diseases
associated with imprinting defects including Beckwith–
Wiedemann syndrome, Silver–Russell syndrome, Angelman
syndrome and Prader–Willi syndrome.
vAngle man & Prader Willi Syndromes :

INDU
§ Related to Chromosome Number 15.

M B
§ Paternal inheritance of a deletion of this region is

A
associated with Prader-Willi syndrome (hypotonia, obesity)
I
H
Maternal inheritance of the same deletion is associated
with Angelman syndrome (epilepsy, tremors, and a
perpetually smiling facial expression).
vNOEY2 :
• NOEY2 is a paternally expressed imprinted gene located on
chromosome 1 in humans. Loss of NOEY2 expression is linked to
an increased risk of ovarian and breast cancers.

NDU
• In 41% of breast and ovarian cancers the protein encoded by
I
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suppressor gene. B
NOEY2 is not expressed, suggesting that it functions as a tumor
A
H
• Therefore, if a person inherits both chromosomes from the mother,
the gene will not be expressed and the individual is put at a greater
risk for breast and ovarian cancer.
vThe "imprinted brain theory" argues that unbalanced imprinting
may be a cause of autism (less intellectual or Cognitive skills).
Theories on Origin of Imprinting :
1. Parental conflict theory/kinship theory of genomic imprinting:

DU
This hypothesis states that inequality between parental genomes due to
IN
M B
imprinting is a result of differing interests of each parent i.e. paternally
A
expressed genes tend to be growth promoting and maternally expressed
I
H
genes tend to be growth limiting.
2. Natural Selection Theory :
This hypothesis suggest that the imprinting started as a defense
mechanism for silencing foreign DNA/viral DNA mistakenly some self
genes were silenced which turned out to be beneficial for the organism.
9.4 Chromosomes and chromosomal aberrations in man,
methodology.

U
(a) Numerical and structural aberrations (disorders).

IND
(b) Sex chromosomal aberrations - Klinefelter (XXY), Turner (XO),
B
HIM A
Super female (XXX), intersex and other syndromic disorders.
(c) Autosomal aberrations - Down syndrome, Patau, Edward and Cri-
du-chat syndromes.
(d) Genetic imprints in human disease, genetic screening, genetic
counseling, human DNA profiling, gene mapping and genome study.
1. Describe the mechanisms for structural anomalies with
diagrams. (2018, 20M)
2. Down’s syndrome (2015,10M)
3. Discuss chromosomal aberrations in man illustrating with
examples. (2015,15M)

INDU
B
4. Describe Turner and Klinefelter Syndromes in (2014,15M)

IM A
5. Discuss the chromosomal aberrations and manifestations of

H
Klinefelters and Turners syndromes (2012, 20 marks) 2010
6. How many numerical aberrations in sex chromosomes lead to
genetic disorders? (15m,2020)
7. What are the applications of human genomic research in
human welfare? (15M,2020)
 9.3. POPULATION
GENETICS
I N D U
I M A
Comprehensive B
course in anthropology
H CODE: HIMABINDU
REFERRAL
• GENETICS TERMINOLOGY
• Genes: Any functional sequence of nucleotides on the DNA.
• Gene functions: Genes code for proteins or determine characters.

DU
• Locus: The position occupied by a gene on the chromosome is called
IN
a locus (Pleural: Loci)

IM A B
H
• Allele / Allelomorph:
• The alternative forms of a gene occupying the same locus but on
homologous chromosomes are called alleles .
• Alleles govern the alternative forms of the same primary character
• Alleles arise due to mutations.
• Eg: T = tallness
• t = dwarfness, the alternative forms of a same primary character
called length of a pea plant.

INDU
IM B
• Genome: The total amount of DNA present in a prokaryotic nucleoid
A
or the haploid genetic content of a diploid nucleus.
H
• Phenotype: Refers to the external appearance of a character.
• Genotype: The genetic constitution at that locus responsible for a
phenotype is called the genotype.
• Homozygous: If the two alleles governing a particular character are
identical, that condition is said to be homozygous condition.
• Heterozygous condition: If the two alleles governing a particular

DU
character are dissimilar, that condition is said to be heterozygous

IN
condition.

IM A B
• Hemizygous: The characters that are governed by only one allele are
H
called hemizygous characters.
• e.g. Characters in haploid organisms and
• the sex-linked characters in diploid male
• individuals
• Carriers: A heterozygous individual who possess a deleterious
recessive allele hidden from the phenotypic view by the dominant
normal allele is called a carrier. Carriers, can inherit the deleterious

U
alleles though they do not themselves show the character.

B IND
• Species: A group of individuals that can interbreed and give birth to

IM
fertile offspring.
H A
• Population: A group of individuals belonging to the same species.
• Population Genetics: Study of Genetics or genes at population level
is known as the population genetics.
• Deme: A small, partially isolated local population is known as a deme.
• Random mating: In random mating, every male gamete produced by
the population has equal opportunity or probability of uniting

DU
with any female gamete of that population and vice versa.
IN
A B
• Mendelian population /Randomly mating population/ Panmictic
IM
H
population: A population showing random mating is known as
panmictic population. (Panmixis = random mating).
• Gene frequency: The proportion of different alleles of a gene pair
present in a Mendelian population is called the gene frequency.
• Genotype frequency: The proportion of different genotypes of a gene
pair in a population is known as the genotype frequency.

NDU
• Gene pool: the sum of all the genes present in the reproductive
I
A B
individuals of a population constitutes its gene pool.

IM
H
• Gametic pool: The sum of different types of gametes produced by a
population constitutes its gametic pool.
 HARDY – WEINBERG LAW
1. Hardy-Weinberg law. (2017, 10M)

INDU
B
2. Conditions necessary for the operation of Hardy-Weinberg law

IM
(2011,10Marks)

H A
• Hardy-Weinberg law: The gene and genotype frequencies in a
Mendelian Population remain constant generation after generation if
there is no Mutation, Selection, Migration and Random genetic drift

U
acting on that population.

B
• Proof of Hardy – Weinberg law:
IND
HIM A
• The two alleles of a gene pair are A and a.
• p and q are their gene frequencies respectively.
•They can form 3 genotypes.
• AA – 25%, Aa – 50%, aa – 25%.
•Then the gene frequency of A & a are
• P = 2D + H = 2 (25) + 50 = 0.5
200 200

U
• Q = 2R + H = 2 (25) + 50 = 0.5
200 200
B IND
HIM A
• Therefore p + q = 1. Now we have to prove that after random mating,
in the next generation also p + q remains to be 1, provided there are no
evolutionary forces acting on that population, like mutation, migration,
selection and random genetic drift.
 A (p) a (q)
Proof:
A ( p) AA ( p2 ) Aa ( pq )

a (q ) Aa ( pq )

INDU
Aa ( q2 )

•
M A B
p2 + 2pq + q2 = (p + q )2 = (1)2 = 1
I
H
• This proves that in the next generation also the gene frequencies of the
population remained the same.
I.e., p + q remained the same even in the next generation also.
Genotype frequency:
• The genotype frequency of
• AA = P2, Aa = 2pq, Aa = q2

DU
• We already proved that p2 + 2pq + q2 = 1 and it also remains the

IN
IM B
same generation after generation provided there are no evolutionary
A
forces acting ion that population.
H
Conditions for a population to obey Hardy – Weinberg law:
• The population should be large
• The population should have a random distribution of pre re
productive, reproductive and post re productive ages.
• Individuals of all genotypes should be equally viable.
• All viable individuals should be equally fertile.
• The population should be randomly distributed.

NDU
• There should not be any evolutionary forces acting on that
I
A B
population, like mutation, migration, selection and random genetic

IM
drift
H
• Such a population obeys Hardy – Weinberg law. I.e. such a a
population is said to be in Hardy – Weinberg equilibrium.
DEVIATIONS FROM HARDY– WEINBERG LAW / FACTORS
INFLUENCING GENE FREQUENCY

INDU
1. Explain the mechanisms of human variation in gene frequencies.
(2018, 20M)
IM A B
H
2. Discuss the factors affecting gene frequencies among human
populations. (2014, 20M)
REPRODUCTIVE ISOLATION
• The mechanisms of reproductive isolation are a collection of
evolutionary mechanisms, behaviors and physiological processes
critical for speciation.

DU
• They prevent members of different species from producing offspring
IN
B
or ensure that any such offspring are sterile.

IM A
• These barriers maintain the integrity of a species by reducing gene
H
flow between related species.
• Reproductive isolation results from diverse factors that fall into two
major categories according to whether the isolation prevents a zygote
from forming (Pre-zygotic Isolating Mechanisms) or eliminates the
chance of childbirth after the zygote is formed (Post-zygotic Isolating
Mechanisms).
1. Pre-zygotic Isolating Mechanisms (Cause Speciation)
By circumventing mating between individuals from two different
populations or by interfering with fertilization, these mechanisms

U
block gene flow between two populations. Under this heading are
included a number of types:
B IND
IM A
a. Ecological isolating mechanisms: Habitat preference separates
populations. H
b. Temporal isolating mechanisms: Differences in time of sexual
activity separates populations.
c. behavioral isolating mechanisms: Reproductive behavior can be a
signaling system that allows potential partners to recognize each other,
it brings partners together, and stimulates sexual receptivity, and
proper copulatory behavior ensures fertilization will take place.
Divergence in behavior at any of these stages can act as a barrier to
gene exchange.

NDU
d. Structural isolating mechanisms: Interbreeding is restricted by
I
IM B
differences in the morphology of the reproductive parts.
A
e. Gametic isolation: Female and male gametes of different species
H
do not attract each other.
f. Gametic mortality: Occasional fertilization between different
species does not occur because the sperm of a different species dies in
the environment created by the female before fertilization can take
place.
2.Post-zygotic Isolating Mechanisms (Reinforce-Speciation)
Under this broad heading are a number of cytological and
developmental factors that interfere with reproductive success after
fertilization.

NDU
a. Zygotic mortality: Even when fertilization is successful, the
I
A B
resulting zygote may subsequently die at any stage in its development.

IM
H
b.Hybrid in viability: Offspring are born but fail to survive to
reproduce.
c. Hybrid sterility: Offspring are healthy but are sterile and leave no
offspring.
d. Hybrid breakdown: The first generation of offspring (F1) may be
healthy and live to reproduce, but their offspring (F2) are in viable or
sterile.
NATURAL SELECTION

DU
• A predominant force that is acting on a population That selects a new

IN
IM A B
mutant allele either in favour or against is called natural selection.

H
• FORMS OF SELECTION
1. Gametic selection: When the Selection operates at Gametes or the
haploid part of the Life cycle, then it is called the Gametic selection.
The Gametic selection is of two types. i.e. Selection against A type
gametes & Selection against a type gametes.
2. Zygotic selection: If the natural selection operates on zygotes or the
diploid part of the life cycle, then it is called the Zygoyic selection. it is
of 4 types.
a. Stabilising selection: The selection removes extremes and favours

DU
intermediate forms. E.g. Human neonatal mortality is more in the
IN
A B
neonates with very less and very high birth weight. ( AA¯ Aa­ aa¯ )

IM
H
b. Directional selection: Selection favours one extreme form over other
extreme form
• ( AA­ Aa¯ aa¯ ) / ( AA¯ Aa¯ aa­ )
Ø Selection of colour: Human skin colour (discussed in Ecological
anthropology).

NDU
Ø Selection of B blood group in oriental region: As B blood group
I
A B
is associated to more resistance against infectious diseases.

IM
H
Ø Selection of lactase gene: Lactase gene is found in the populations
that use milk but not found among the populations that do not use
milk.
• Selection of fast allele for alcohol metabolism in oriental region:
Alcohol
Alcohol dehydrogenase

INDU
Acetaldehyde

IM A B
H Acetaldehyde dehydrogenase

CO2 and H2O

• There are two alleles for alcohol dehydrogenase. Slow and fast.
Acetaldehyde produces intoxicating effect on nerve synapses. If the
fast allele forms it rapidly it causes irritation to the nervous system.
Oriental people have fast allele as they do not consume alcohol and

warming effect.
IN U
temperate region people have slow allele as they consume alcohol for
D
M A B
Ø Selection of wide nose in hot and humid regions as it allows fast exit
I
H
of warm air from the lungs and prevents excessive heating of interior.
Narrow nose in cold climates warms up the cold air go in to the lungs
Ø Selection of long limbs in hot climate
• (Allen’s rule 9.7)
c. Disruptive selection: Selection favors both homozygotes and
heterozygotes are eliminated from the population. ( AA­ Aa¯ aa­ ).

DU
Inbreeding leads to disruptive selection.

IN
A B
d. Relaxed selection: In such selection sometimes unfavourable

IM
H
genotypes are selected due to certain factors like environment,
culture etc.
• Environmental: Heterozygote advantage: Sickle cell anemia,
Thalassemia etc.

DU
• Cultural adaptation and relaxed selection:
IN
A B
• E.g. Frequency of gene for red green colorblindness is more (5-10%)

IM
H
in agricultural and pastoral communities but it is less (2%) in hunters
and gatherers is it hampers their work.
• Selection coefficient (or) Selection differential, S: The magnitude of
natural selection against a genotype is denoted by S.
S = 1 – W.
MUTATIONS :
• Sudden heritable change in gene sequence that alters gene
function.
• In the context of evolution, mutations are two types.
a)
INDU
Non recurrent mutations: Mutation that occurs only once, i.e. the

A B
same mutation will not occur in the future generations of a

IM
H
population.
A a
Po = 1
qo = 0
(Because, the same mutation never occurred before)
• Where Po & qo are the initial frequencies of A & a before mutation
and U is the rate of mutation per generation .

DU
• Changed gene frequency after mutation

IN
IM A B
q1 = qo + Upo

H p1 = po – Upo
• U proportion of P is changing to q
• Where p1 & q1 are the changed gene frequencies after Mutation.
• Change in gene frequency ∆ q because of Mutation :
∆ q = q1 – qo
= qo + Upo - qo
∆ q = Upo
INDU
M
• Similarly , ∆p= p1 - po
I A B
∆p
H
= po – Upo – po
= - Upo
b) recurrent mutations: when a given Mutation occurs regularly,
although at a very low rate, it is called a recurrent mutation.
• Changed gene frequency after mutation (q1):
q1 = qo + Upo – Vqo

INDU
IM B
p1 = po – Upo + Vqo
A
• U proportion of P is changing to q. and V proportion of q is
H
changing to p
• Where p1 & q1 are the changed gene frequencies after Mutation.
• Change in gene frequency ∆ q because of Mutation:
∆ q = q1 – qo
= qo + Upo - Vqo - qo
∆ q = Upo – Vqo

INDU
• Similarly, ∆p = p1 - po

IM A B
= po – Upo + Vqo – po
H= - Upo + Vqo
∆p = Vqo - Upo
• At Mutational equilibrium:
p = U
U+V
q = V

INDU
IM
U+V
A B
H
• MIGRATION
• Movement of some individuals of a population in to another population and
their intermating with the individuals of the new population (or)
contribution of the gene pool of a population by some individuals of another
population. Migration can also be called as the Gene flow.
• The migration ratio, m = M / (N + M)
• where M = the no. of migrant individuals and N = the no. of native
individuals (Individuals in the population before migration.

DU
• Changed gene frequency after migration ,

IN
• q1 = m.qm + (1 – m ) qo

IM A B
H
= m.qm + q o – mq
= m.qm – m.qo + qo
q1 = m (qm – qo ) + qo
• where m = proportion of immigrants
• 1 – m = proportion of natives
• qm = frequency of recessive alleles among migrants

NDU
• qo = Initial frequency of recessive alleles among natives.
I
M A B
• Change in gene frequency ∆ q because of migration :
I
H =
∆ q = q1 – qo
m (qm – qo ) + qo – qo
therefore ∆ q = m (qm – qo )
• If q1 < qo ∆ q value becomes negative .
I.e. Emigration occurred .

INDU
• If q1 > qo ∆ q value becomes Positive .

IM A
I.e. Immigration occurred . B
H
• If q1 = qo ∆ q value becomes zero .
I.e. no migration occurred .
10. What are the genetic effects of consanguinity? give examples.
(2012,20 marks)
Genera Inbreeding Inbreeding among Aa Inbreeding among
tion among AA aa

INDU
B
AA X AA Aa X Aa

A
I aa X aa

M
100% AA AA Aa aa

HI 25% 50% 25% 100%aa

AA X AA Aa X Aa aa X aa
II (25+12.5 = AA Aa aa (25+12.5 = 37.5%)
37.5%) 12.5% 25% 12.5%
GENETIC EFFECTS OF INBREEDING:
• Reduces the genetic polymorphism.

U
• Reduces the frequency of heterozygotes by 50% in each generation.

B IND
• Increases the frequency of homozygotes.

IM A
• Increases the incidence of recessive genetic diseases.
H
• Causes disruptive selection.
E.g. Sickle cell anemia & Thalassemia
RANDOM GENETIC DRIFT
• Random genetic drift: (also known as allelic drift or the Sewall
Wright effect) is the change in the frequency of an existing allele in a
population due to random sampling of organisms.
• Bottle neck effect:
INDU
A B
• A population bottleneck is when a population contracts to a

IM
H
significantly smaller size over a short period of time due to some
random environmental event.
• In a true population bottleneck, the probability for survival of any
member of the population are purely random and are not improved by
any particular inherent genetic advantage.
• The bottleneck can result in radical changes in allele frequencies,
completely independent of selection.
• An interesting example of a bottleneck causing unusual genetic
distribution is the relatively high proportion of individuals with

DU
total rod cell color blindness (achromatopsia) on Pingelap

IN
B
atoll in Micronesia.

IM A
• After a bottleneck, inbreeding increases. This increases the damage
H
done by recessive deleterious mutations, in a process known
as inbreeding depression. The worst of these mutations are selected
against, leading to genetic purging.
• This leads to a further loss of genetic diversity and even beneficial
adaptations may be permanently eliminated.
• The loss of variation leaves the surviving population vulnerable to any
new selection pressures such as disease, climate change or shift in the
available food source, because adapting in response to environmental
changes requires sufficient genetic variation in the population for

U
natural selection to take place.
Founder effect:

B IND
HI A
• When very few members of a population migrate to a previously
M
uninhabited region and form a separate new population, the founder
effect occurs.
• For a period after the foundation, the small population experiences
intensive drift.
• The founder effect is a special case of a population bottleneck.
Case study:
• A well-documented example is found in the Amish migration
to Pennsylvania in 1744. Two members of the new colony shared the
recessive allele for Ellis–van Creveld syndrome. Members of the

INDU
colony and their descendants tend to be religious isolates and remain
relatively insular. As a result of many generations of inbreeding, Ellis-

A B
van Creveld syndrome is now much more prevalent among the Amish
IM
H
than in the general population.
Related debates:
• Sewall Wright was the first to attach this significance to random drift
to small, isolated populations with his shifting balance theory of
speciation.
• Following Wright, Ernst Mayr demonstrated that the decline in
genetic variation following the founder effect is critically important
for new species to develop.
• Random drift by means of sampling error came to be known as the
"Sewall–Wright effect,"

INDU
M B
• Wright referred to all changes in allele frequency as either "steady
A
drift" (e.g., selection) or "random drift" (e.g., sampling error).
I
H
• Sewall–Wright was criticized by his colleague Ronald Fisher. Fisher
conceded that genetic drift played some role in evolution, but an
insignificant one. Fisher has been accused of misunderstanding
Wright's views because in his criticisms Fisher seemed to argue that
Wright had rejected selection almost entirely.
• To Fisher, viewing the process of evolution as a long, steady, adaptive
progression was the only way to explain the ever-increasing
complexity from simpler forms.

DU
• The debates continued between the "gradualists" and those who lean

IN
B
more toward the Wright’s model of evolution where selection and drift

HIM A
together play an important role.
• In 1968, Motoo Kimura rekindled the debate with his neutral theory
of molecular evolution, which claims that most of the genetic
changes are caused by genetic drift acting on neutral mutations.
GENETIC POLYMORPHISM

5.Define genetic polymorphism. Give details of its types with suitable

examples. (2015,15M)

INDU
A B
6. Differentiate between transient and balanced genetic

IM
H
polymorphism. Illustrate your answer with suitable examples from
Human population. (2019,15M)

7. Genetic polymorphism (2011,10M)

• Derived from a combination of the Greek words poly (Multiple) and
morph (form).
• Definition: Polymorphism is a term used in genetics to describe
multiple forms of a single gene that exists in an individual or among a
group of individuals in a population. (or) Genetic polymorphism refers

DU
to the occurrence of two or more genetically determined phenotypes in
IN
B
a certain population.

IM A
• Polymorphism promotes diversity and persists over many generations

H
if no single form has an overall advantage or disadvantage over the
others in terms of natural selection.
• The term polymorphism was originally used to describe visible forms
of variation, but it is now used to include cryptic modes such as blood
types, which require a blood test to decipher.
• FACTORS INFLUENCING GENETIC POLYMORPHISM:

• Isolation – Decreases

U
• Natural selection – Decreases

IND
• Mutation – Mutations forms new alleles, more the number of alleles
B
HI A
more genotypes, more phenotypes and more genetic polymorphism.
M
• A,B – 2 alleles 3 genotypes
• IAIBIO- 3 alleles 6 genotypes IAIA,IAIB,IAIO,IBIB,IBIO,IOIO
• Migration: Increases; Inbreeding – Decreases
• Random genetic drift: Decreases
Types of Genetic polymorphism based on natural selection:
1. Balanced polymorphism & Superiority of heterozygotes due to
balancing selection: an equilibrium mixture of homozygotes and

INDU
heterozygotes maintained by natural selection against both

B
homozygotes.

HIM A
2.Transient polymorphism due to Directional selection: The human
populations are genetically polymorphic both before and after the
directional selection but directional selection changes composition and
proportion of different alleles in the population.
 U
3. Disrupted Genetic polymorphism due to Disrupive

ND
selection: As the disrupive selection is the selection against

B I
A
heterozygotes that are the major source of genetic

IM
polymorphism, Disrupive selection leads to a decreased
H
genetic polymorphism in the population.
8.Implications of mutation in evolution. (2019,10M)

INDU
9. How natural selection acts on variation, explain with human

M A B
examples? (2012,2009,12M)
I
H
• Mutation can be defined as sudden heritable change in gene sequence
that alters gene function. Mutations occur randomly. Some of them can

Thalassemia).
IN U
be favourable and the others can be unfavourable or lethal (E.g.
D
M A B
• Natural selection acts on mutations so that the favourable mutations
I
H
are selected. E.g. skin color, nose shape, Allen’s rule, Bergman’s rule,
lactase gene, type of alcohol dehydrogenase, colour blindness, sickle
cell anemia etc.
• NOTE: Elaborate on examples to make it 150/200 words
• Thus mutations & variations are necessary for the natural selection to
act upon. Therefore, Mutations can be considered as the most

IN U
important of all evolutionary forces. Mutations are the raw material for
D
evolution. If the individuals having the selected mutations get

A B
migrated, isolated and undergo inbreeding it makes the individuals in

IM
H
the group similar to each other and the group different from the other
groups leading to speciation. (Formation of new species).
 U
9.3 Concept of genetic polymorphism and selection,

ND
Mendelian population, Hardy-Weinberg law; causes and

B I
A
changes which bring down frequency - mutation, isolation,

HIM
migration, selection, inbreeding and genetic drift.
Consanguineous and non-consanguineous mating, genetic
load, genetic effect of consanguineous and cousin marriages.
 INDU
9.2. MENDELIAN
IM A B
GENETICS
H
 9.2 MENDEL’S LAWS
1.Law of unit factors: Each character is controlled by an individual
factor as a unit.
Deviations: Gene interaction, Polygenic inheritance etc.

DU
2. Law of dominance: If two contrasting factors are brought together in
IN
IM B
a cross, one of them express itself. This is called the dominant factor.
A
The other factor is called the recessive factor and it does not express
itself.
H
Deviations: Codominance, incomplete dominance, Multiple alleles.
3. Law of segregation: This law is also known as the law of purity of
gametes or the universal law of genetics, as this law has got no
deviations.
• Statement: The factors are separated during gamete formation, each
gamete having only one factor and is not influenced by the other factor

DU
though both had remained together .

IN
IM B
• 4. The law of independent assortment : Factors for different
A
characters behave independently. No two characters need to be always
H
together. Different combinations of the characters are possible.
Deviations: Linkage.
Law of segregation is the only law which is universally accepted.
SINGLE FACTOR INHERITANCE:
Monohybrid cross, Dihybrid cross
• No . of different types of Gametes ® 2n

NDU
• No . of different types of Phenotypes ® 2n
I
A B
• No . of different types of Genotypes ® 3n

IM
H
• No. of individuals / The minimum population size needed to allow
random genetic mating ® 4n
• Where n = No. of Characters under consideration . For example
 No. of No. of No. of No. of
gametes phenotypes genotypes individuals
Monohybrid 21 = 2 21 = 2 31 = 3 41 = 4
cross
INDU
Dihybrid 22 = 4
IM A B
22 = 4 32 =9 42 = 16
Cross
Trihybrid H
23 = 8 23 = 8 33 = 27 43 = 64
cross

Back cross & Test cross, Incomplete dominance, Codominance

MULTIPLE ALLELES:
• A set of 3 or more alleles that arise as a mutation and occupy the same
locus but on the homologous chromosomes are called the multiple alleles.
• Characteristic features of multiple alleles :

homologous chromosomes.
IN U
• All the alleles of a multiple allelic series occupy the same locus but on the
D
A B
• Only 2 members of a multiple allelic series are present in diploid
IM
H
individual. Therefore the term multiple alleles is appropriate only when
we consider in a population but not in a single individual.
• Only 1 member of a multiple allelic series is present in a gamete or in a
haploid individual.
• There is no crossing over between the members of a multiple allelic
series.
• All the members of a multiple allelic series govern the same primary
character but each with a different form of expression.
• Multiple alleles arise because of mutations.
• Between the members of a multiple allelic series, the allelic relation

IN U
can be complete dominance / incomplete dominance/ codominance.
D
E.g., ABO blood group system, Rh blood group system, HLA / MHC

A B
locus – HLA is the highest polymorphic locus ever known.

IM
H
• No of phenotypes = n
• No. of genotypes = n (n+1) / 2
• Where n = no. of alleles
1.Discuss the role of ABO blood group system in resolving the cases of
disputed paternity (2012,20M)
9.2. MULTIPLE FACTOR HYPOTHESIS (OR) POLYGENIC
INHERITANCE (OR) ADDITIVE GENE ACTION IN
MAN :-
• Genes showing additive gene action are called ‘Multiple factors’
or ‘Poly genes’

INDU
IM B
• Each polygene has 2 alleles.
A
• One allele of each Poly gene Contributes to the final phenotype
H
(produces a positive effect on the character governed by that
gene). Such allele is called the “Positive allele”.
• The other allele of each gene has no effect on the character. Such allele
is called the negative allele.

DU
• Each positive allele of the gene governing a trait produces Equal,
IN
A B
identical and additive effect on the character.

IM
•
H
(Red) AABB X aabb (White)
AaBb X AaBb
Genotype No. of individuals No. of positive alleles
AABB 1 4
AABb 2 3
AAbb 1

INDU 2
AaBB

IM
2
A B 3

H
AaBb 4 2
Aabb 2 1
aaBB 1 2
aaBb 2 1
aabb 2 0
• already explained in the postulates, the final phenotype depends up on
the total no. of positive alleles. Therefore,
• Phenotype

NDU
• Dark red Medium dark red Light red Pink
I
white
4

IM
3
A B 2 1 0

H
• Phenotypic ratio = 1 : 4 : 6 : 4 : 1
9.2. POLYGENIC INHERITANCE IN MAN
• In Humans polygenic inheritance is observed in the inheritance of
Skin complexion, behavior pattern, Height, Intelligence, Number of
hair on the scalp, etc.

U
• Such characters are more influenced by environment.

IND
• Such characters are called quantitative characters as they can only be
B
HI A
measured but cannot be classified.
M
9.2. LETHAL GENES AND SUB LETHAL GENES
Recessive Lethal Genes:
• They do not actually cause death unless an organism carries two
copies of the lethal allele. Examples of human diseases caused by
recessive lethal alleles include cystic fibrosis, sickle-cell anemia.
Dominant Lethal Genes:
• Dominant lethal genes are expressed in both homozygotes and
heterozygotes. But how can alleles like this be passed from one
generation to the next if they cause death? Dominant lethal genes are

DU
rarely detected due to their rapid elimination from populations. One

IN
B
example of a disease caused by a dominant lethal allele is

HI
reduces life expectancy. A
Huntington's disease, a neurological disorder in humans, which
M
• Because the onset of Huntington's disease is slow, individuals carrying
the allele can pass it on to their offspring. This allows the allele to be
maintained in the population. Dominant traits can also be maintained
in the population through recurrent mutations.
Complete lethal genes: Genes that cause the death in all the individuals
who possess the gene in required number of copies.
Semi lethal or Sublethal Genes: Genes that cause the death only in
some of the individuals who possess the gene in required number of
copies.

INDU
IM B
1. Recessive complete lethal: Cause death in all the individuals who
A
possess the gene in homozygous condition. E.g. Sickle cell anemia

possess
H
2. Recessive sublethal: Cause death in some of the individuals who
the gene in homozygous condition.
E.g. Hemophilia
3. Dominant complete lethal:
Cause death in all the individuals who possess the gene in either homozygous or
heterozygous condition. E.g. Huntington’s disease.
4. Dominant sublethal: Cause death in some of the individuals who possess the

U
gene in either homozygous or heterozygous condition.
E.g. Polycystic kidney disease

B IND
HIM
5. Conditional Lethal Genes
A
• Favism: Hemolytic response to the consumption of fava beans (broad beans). It is a
sex-linked character that results from deficiency of glucose-6-phosphate
dehydrogenase. It is common in Mediterranean, Africa, Southeast Asia. It has a
survival advantage as individuals with the favism allele are resistant to malaria.
Called conditional lethal as they cause death only if the patient consumes fava
beans.
• Phenyl Ketonuria, Alkaptonuria & Tyrosinosis: They are the inborn
errors in metabolism of Phenyl alanine & Tyrosine amino acids

DU
(Essential amino acids). Called conditional lethal as they cause death

IN
the diet.
IM B
only if the patient consumes Phenyl alanine & Tyrosine amino acids in
A
H
• Genes that affect survival: They are super vitals, Vitals, Sub vitals,
Sub lethals and lethals, depending on the degree of their impact on
survival.
9.2 Mendelian genetics in man-family study, single factor, multifactor,
lethal, sub-lethal and polygenic inheritance in man.
2.Categorise genes that influence human survival.( 2018, 10M )

INDU
3.Critically discuss the Mendelian principles and their application to

B
human populations. (2016,15M)

IM A
4.Discuss monogenic and polygenic inheritance in man citing suitable
H
examples (2011, 30Marks)
5.What do you understand by Genetic load in a population? How is it
measured and what are the important factors that can influence it.
(2013,15M also in 2009)
9.3. GENETIC LOAD
Genetic load (L) is defined as the reduction in the mean fitness of a
population relative to a population composed entirely of individuals having the
maximal fitness.

L= Wmax - W
INDU
Wmax.
IM A B
H
• Where Wmax = Fitness of the fittest possible genotype
• W = Mean fitness of the actual population
1. SELECTIONAL LOAD:
Selection occurs when the fitnesses of particular alleles are inequal,
hence selection always exerts a load. This occurs due to natural
selection in cases were a particular combination of alleles is favoured
over the other.
INDU
A B
a. During directional selection:

IM
H
• For alleles A1 to An
• With Gene frequencies P1 to Pn
• And Fitness W1 to Wn
• P1 > P2 & W1 > W2
• P1 @ 1 & P2 @ 0 , W = Wmax

• Because W= 1+ 0
1

DU
(Denominator is 1 because the other allele is lost from the population)
IN
IM A B
• L= Wmax-W
Wmax H = 1-1 = 0
1
• Selectional load is a measure of the cost of a deleterious allele due to
selection. If an allele is totally lost from a population, it cannot exert
load on that population. In such population only AA exist and all of
them survive.
b. Balancing selection:

INDU
B
• P= 0.5, q = 0.5
• W1 = W2
HIM
• Therefore W= 0.5+0.5 = 0.5
A
2
• (denominator is 2 because both alleles existing in population)
• L = Wmax –W = 1-0.5 =0.5
Wmax 1

U
• It means only Aa exists and 50% of their children (AA & aa) Die.
c. Disruptive selection:
B IND
IM
• P = 0.5 , q = 0.5

H A
Therefore W1 = W2

• Therefore W = 0.5+0.5 =0.5

2
• (Denominator is 2 as both alleles are existing in the population)
• L= Wmax-W = 1-0.5 = 0.5
Wmax 1
• It means only AA & aa exist and all Aa die or decrease.

U
2. Mutational load: The genetic load exerted on a population due to

IND
mutations. E.g. Sickle cell anemia, Hemophilia.

B
3. Migration load:

HIM A
• Migration load is the result of non - native organisms that aren’t
adapted to a particular environment coming into that environment. If
they breed with individuals who are adapted to that environment, their
offspring will not be as fit as they would have been if both of their
parents had been adapted to that particular environment.
4. Inbreeding load: Inbreeding decreases the fitness of a population by
inbreeding depression.
5. Incompatibility load: A genetic load on the individuals due to the
genetic incompatibility between mother and the foetus.

INDU
Eg: Rh Disease (Erythroblastosis Fetalis)

IM A B
• When a mother who is pregnant with a baby whose blood type is
H
incompatible with the baby's, antibodies in the mother's blood may
cross the placenta and attack the baby's red blood cells. This causes
anemia in the baby. If it is severe enough, it can cause the baby to die
before birth.
• Causes and Risk Factors: This most commonly happens when a
woman with Rh-negative blood becomes pregnant by a man with Rh-
positive blood and conceives a baby with Rh-positive blood.

NDU
• Red blood cells from the baby can leak across the placenta into the
I
A B
woman's bloodstream during pregnancy or delivery. This causes the

IM
H
mother's body to make antibodies against the Rh factor.
• If the mother becomes pregnant again with an Rh-positive baby, it is
possible for her antibodies to cross the placenta and attack the baby's
red blood cells.
• After birth, an affected newborn may develop kernicterus (A type of
brain damage due to high levels of bilirubin in baby’s blood) This

INDU
happens when bile pigments are deposited in the cells of the brain

IM A B
and spinal cord and nerve cells are degenerated.

H
• Incompatibilities between ABO blood types can also cause this
condition. These are less common than those of the Rh factor and
tend to be less severe.
PREVENTION:
• RhoGAM , Antibody for Rh antigen. Given to the Rh-
negative mother pregnant with a possible Rh-positive foetus

DU
between 26 to 28 weeks of pregnancy and an additional dose

IN
B
within 72 hrs. after delivery. It will mask the Rh antigen and

M A
prevent the production of Rh antibodies by the mother.

HI
9.1. HUMAN GENETICS: METHODS AND
APPLICATIONS

9.1.1 METHODS FOR THE STUDY OF

GENETIC PRINCIPLES IN MAN FAMILY
STUDY: PEDIGREE ANALYSIS:
Genetics conditions caused by mutation in single gene follow
predictable patterns of inherence Within families. Single gene
inheritance is also referred to as Mendelian inheritance as they follow
Transmission patterns he observed in his research on peas. There are
five types of Mendelian inheritance
Patterns.
Autosomal dominant , Autosomal recessive, X-linked recessive
X-linked dominant and Y – linked :
Autosomal Dominant: Dominant conditions are expressed in individuals
who have just one copy of the mutant allele. The pedigree given below
illustrates the transmission of an autosomal dominant trait.

• No skipping of generations
• No carriers
• Every diseased individual will definitely have at least one diseased
parent
• Expressed both in homozygous and heterozygous conditions.
• Both the sexes have equal chance of inheritance.
• Transmission among all the sexes is allowed ( Mother – son ,
Mother – daughter , Father – son , Father – daughter).
• Autosomal Dominant Conditions:
• Huntington Disease – Nerve degeneration
• Achandroplasia (short-limbed dwarfism)
• Polycystic kidney disease

U
• Brachydactily ( Short fingers)
•
IND
Porphyria ( Skin lesions due to exposure to sun)

B
• Polydactily( Extra fingers)

HIM
• Autosomal Recessive A
• Recessive conditions are clinically manifest only when an individual has two
copies of the mutant allele. When just one copy of the mutant allele is
present, an individual is a carrier of the mutation, but does not develop the
condition. Females and males are affected equally by traits transmitted by
autosomal recessive inheritance.
• When two carriers mate, each child has a 25% chance of being
homozygous wild-type (unaffected); a 25% chance of being homozygous
mutant (affected); or a 50% chance of being heterozygous (Unaffected
carriers)

INDU
• Expressed only in homozygous condition.

B
• Equally expressed in both the sexes.

HIM A
• Skipping of generations is observed.
• Heterozygotes acts as carriers for the disease, that is they themselves donot
suffer with the diseases but carry the diseased allele to the next generation.
• Both males and females can be carriers.
• Every affected individual need not have a diseased parent.
 INDU
• Affected individuals are indicated by solid black symbols and

IM B
unaffected carriers are indicated by the half black symbols.

A
Autosomal recessive diseases:
H
• Cystic fibrosis
• Tay-Sachs
• Hemochromatosis
• phenylketonuria (PKU)
• Sickle cell Anaemia
• Alkaptonuria
• Spinal muscular Atrophy
• Microcephaly
• Albinism
• Schizophrenia

INDU
• X-linked Recessive

IM A B
H
• X-linked recessive traits are not clinically manifest when there is a
normal copy of the gene. All X-linked recessive traits are fully evident
in males because they only have only one copy of the X chromosome,
thus do not have a normal copy of the gene to dominate the mutant copy.
For that same reason, women are rarely affected by X-linked recessive
diseases, however they are affected when they have two copies of the
mutant allele.
• Because the gene is on the X chromosome there is no father to son
transmission, but there is father to daughter and mother to daughter
and son transmission. If a man is affected with an X-linked recessive

INDU
condition, all his daughter will inherit one copy of the mutant allele

B
from him.

HIM A
• Predominantly males are affected (50% males while only 25%
females)
• Criss – Cross pattern of inheritance observed (Grandfather to grandson
through a carrier mother i.e. skipping of generation only with mother)
is a characteristic feature of the X linked recessive diseases.
• Father cannot carry the disease to the son as the son inherits his X
chromosome from mother but not from the father.

INDU
IM A B
H
• X-linked Recessive Disorders:
• Duchenne muscular dystrophy
• hemophilia A
INDU
A B
• linked severe combined immune disorder (SCID)

IM
H
• some forms of congenital deafness
• Red- Green colour blindness
• G-6-pD Deficiency
• Predominantly females are affected ( 50% of males are affected while
75% of the females are affected.
• Father cannot carry the disease to the son as the son inherits his X

DU
chromosome from mother but not from the father. Therefore, skipping
IN
A B
of generations possible ( Note: If father is diseased if they have only

IM
H
sons, sons cannot get the disease but it cannot be called skipping of
generations, it is the disease getting eliminated from the pedigree as it
cannot be see again in the next generation) .
• X-linked Dominant
• Because the gene is located on the X chromosome, there is no

NDU
transmission from father to son, but there can be transmission from
I
A B
father to daughter (all daughters of an affected male will be affected

IM
H
since the father has only one X chromosome to transmit). Children of
an affected woman have a 50% chance of inheriting the X
chromosome with the mutant allele. X-linked dominant disorders are
clinically manifest when only one copy of the mutant allele is present.
• Affected female, if homozygous can carry the disease to all her
progeny.

INDU
IM A B
H
• X-linked Dominant Disorders
• Some forms of retinitis pigmentosa
• Chondrodysplasia Punctata
• Hypophosphatemic rickets
INDU
IM
• Y- linked inheritance :
A B
H
• They are called as holandric characters as they are found only in
males.
• Not found in females as they do not have the y chromosome.
• E.g. Hypertrichosis pinnae (More hair on the ear)
 9.1.2.TWIN STUDIES :

• A twin is one of two offspring produced in the same pregnancy. Twins

DU
can either be monozygotic ("identical"), meaning that they develop

IN
IM B
from one zygote that splits and forms two embryos, or dizygotic
A
("fraternal") because they develop from two separate eggs that are
H
fertilized by two separate sperm.
 INDU
IM A B
H
 9.1.3. CO TWIN METHOD:
• Genetic use of identical twins:
• Expression of any character depends on two factors The

U
genotype(Nature) and the environment(Nurture). The relative roles of

B IND
either genotype or the environment vary with respect to different
characters. I.e, In the determination of few characters genotype plays a

IM A
key role while in the determination of few other characters

H
environment plays a key role.
• As identical twins have identical genes in identical combination, if any
difference is observed in the phenotype it can be ascribed to the
environment. If there are any phenotypic differences in the identical
twins reared apart, Such characters can be understood as more
influenced by the environment than the genotype.
• Eg: Characters like Behaviour, Skincomplexion, Height are more
influence by the environment than the genotype & Characters like
enzyme production etc are more influenced by the genotype than the

INDU
environment. Twins can also be used in therapeutic trials to understand

B
the exact effect of the medicine.

IM A
• Determination of the zygosity of the twins.
H
• Monozygotic twins have a single placenta.
• They have same HLA, Blood groups, DNA fingerprints.
• The dermatoglyphic pattern (Fingerprints) of the identical twins are similar
though not completely identical.
• Grafts or transplants won’t be rejected between the identical twins.
• Estimation of heritability by using twin studies:

NDU
• The concept of heritability can be used to separate the roles of heredity and
I
IM A B
environment in traits. Heritability can be defined as the proportion of
variability of a trait due to genotype in the total phenotypic variance of the
trait.
• H = VG / VP
H
• Where ,H = heritability
• VG = Variability due to Genotype ; VP = Total Phenotypic variability.
• Mean pair difference:
• The tendency of pairs like twins/ co twins/ siblings/ parent and child
etc. to resemble each other can be measured as follows by mean pair
difference.

INDU
•
A B
X = value for one twin

IM
•
H
X1 = Value for co twin
• Mean pair difference for n pairs =Σ(𝑋 − 𝑋1)
n
• Smaller the value of mean pair difference greater will be the similarity
between the individuals of the pair under study.
• Variance: Variance is a statistical phenomenon for the analysis of variation
between the individuals, in this scenario, between the twins.
• V= Σ𝑑2
INDU
IM
N
A B
• And
H
• Where deviation, d = X - X1
X = value for one twin ; X1 = Value for co twin
• Smaller the value of variance greater will be the similarity between the
individuals of the pair under study.
• Concordance and Discordance studies:
• High concordance or correlation with respect to any character between
both Monozygotic and dizygotic twins indicates that it is due to a

DU
simple coincidence. Therefore, we cannot determine whether the

IN
IM A B
character is more influenced by genotype of environment.

H
• High concordance or correlation with respect to any character between
Monozygotic twins and low concordance between dizygotic twins
indicates that it is due to the common genetic background of the
identical twins and thus the character is a genetically influenced
character but it is not much influenced by the environment.
• E.g. 30 pairs of twins are studied for a character for which they are
phenotypically identical. 22 of them are identical twins and 8 of them
are nonidentical twins.

INDU
• The degree of concordance for identical twins = 22/30 X100 = 73.3%

IM A B
• The degree of concordance for nonidentical twins = 8/30 X100 =

H
26.6%.
• The character studied is a genetically influenced character as it is
showing high degree of concordance with identical twins but not with
nonidentical twins.
• Rearing studies:
• If the identical twins are grown separately in different environmental

DU
conditions, They exhibit more difference with respect to the characters
IN
A B
that are more influenced by the environment. Eg: Height, Skin

IM
H
complexion etc. and no difference with respect to the characters that
are more influenced by the genotype. Thus identical twins can be used
to understand the relative roles of the environment and the genotype in
the inheritance of a particular character.
 9.1.4.FOSTER CHILD :

• A child looked after temporarily or brought up by people other than its

NDU
natural or adoptive parents. Foster child can be used to study the role of
I
A B
environment like rearing circumstances in the inheritance of complex

IM
H
environmentally influenced characters like behavior pattern.
 INDU
IM A B UN USUAL

H
TWINS
 INDU
CONJOINED
TWINS/

IM A B SIAMESE

H TWINS
• Half identical twins: When the egg splits and then each half meets a
sperm, “half-identical” twins are formed.

NDU
• Superfetation: Twins Conceived Separately
I
A B
• Typically, when a woman’s egg is fertilized, her cycle is interrupted

IM
H
and her ovulation will cease. However, rarely, an egg can be released
while she is already pregnant, thus resulting in twins that are
conceived at different times.
 • 9.4. GENE MAPPING
• Linkage: The tendency of two or more genes to inherit together (or)
The tendency of the genes to retain parental combination.

NDU
• Linkage group: A group of linked genes is called a linkage group.
I
M A B
• All the genes that are present on a homologous pair of chromosomes
I
H
forms a linkage group.
• Human females have 23 linkage groups and males have 24 linkage
groups (22 pairs of autosomes, X & Y)
• Crossing over / Recombination: Exchange of non-sister chromatids
of homologous chromosomes.
• Crossing over frequency is directly proportional to the distance
between the genes.

INDU
IM B
• Sturtevant developed an idea that the recombination frequency can be
A
used to find out the distance between the two genes on a chromosome.
H
• His unit of map distance is cM (Centi Morgan ) or MU ( Map unit )
• According to Sturtevant , if two genes yield 1% recombinants , they
are said to be 1 MU apart. I.e 1MU or 1cM = The distance that yields
1% recombinants between the two genes.
• Linkage map / Genetic map / Chromosomal map: A graphical condensed
representation showing the gene order & relative distance between the
genes is called the Linkage map .
• Gene mapping in Diploid Organisms : A Dihybrid individual is test
crossed , yielding the following results .
• AaBb

INDU X aabb

IM A B
H AB
Ab ab
AB/ab
Ab/ab
aB/ab
aB ab/ab
Ab
• Phenotypic classes with highest frequency are labeled as parental and
the phenotypic classes with least frequency are labeled as

DU
recombinant, as Linkage is defined as the tendency to retain the

IN
IM B
parental combination. In case of Linkage, the recombinant frequency
A
is always far less than 50%.
H
• Finally the distance between the two genes A & B can be calculated
as follows.
• AB/ab 94
Parental because more frequent
• Ab/ab 86
• Ab/ab 12
Recombinant because less frequent
U
• aB/ab 8

IN
• Distance between the two genes
B D
HIM A
• A & B = No. of recombinants x 100
total
=12+8 X 100 =10MU
200
 CYTO GNETIC METHODS - CHROMOSOMAL &
KARYOTYPE ANALYSIS

DU
• Karyotype: Arrangement of the chromosomes based on their size and

IN
shape.

IM A B
H
• Karyotype analysis: Analyzing the karyotype of an individual for the
diagnosis of chromosomal aberrations.
• Size: Based on the size, Chromosomes are of three types, Large,
Medium and small.
• Shape: Based on the shape, chromosomes are of 4 types, Metacentric,
submetacentric, acrocentric and telocentric. Submetacentric &
acrocentric chromosomes have one short arm & one long arm. They
are represented as P & q arms respectively. Karyotypes are arranged

bottom.
IN U
with the short arm of the chromosome on top, and the long arm on the
D
IM
• Banding techniques:
A B
H
• Cytogenetics employs several techniques to visualize different aspects
of chromosomes:
• G-banding: Obtained with Giemsa stain. Heterochromatin stains dark
and euchromatin stains light.
• R-banding is the reverse of G-banding (the R stands for "reverse").
The dark regions are euchromatic and the bright regions are
heterochromatic.
• C-banding: Giemsa binds to constitutive heterochromatin, so it stains
centromeres. Therefore useful for the identification of chromosomes

DU
based on the position of the centromere. The technique is not so useful

IN
B
as many chromosomes are similar in the position of their centromere.
•

IM A
Q-banding is a fluorescent pattern in ultra violet light obtained using
H
quinacrine mustard for staining. The pattern of bands is very similar to
that seen in G-banding.
• T-banding: To visualize telomeres.
• We can identify any chromosome based on its size, shape and
unique banding pattern.
• The human karyotype
• The normal human karyotypes contain 22 pairs of autosomal
chromosomes and one pair of sex chromosomes. Normal karyotypes
for females contain two X chromosomes and are denoted 44,XX;

DU
males have both an X and a Y chromosome denoted 44,XY. Any

IN
I
abnormalities.
M B
variation from the standard karyotype may lead to developmental
A
H
• Fundamental number
• The fundamental number, FN, of a karyotype is the number of visible
major chromosomal arms per set of chromosomes. Humans have FN =
82.
• Satellite chromosomes: The part of the chromosome between
secondary constriction and telomere of the chromosome is called
satellite, and the chromosomes containing satellite are called satellite
chromosomes. In humans chromosomes 13,14,15,21,22 are the
satellite chromosomes. They can help in the diagnosis of Patau’s,
and Down’s syndromes.

INDU
• Variation is often found:

IM A B
H
1. Between the sexes
2. Between the germ-line and soma (between gametes and the rest of
the body)
3. Between members of a population (chromosome polymorphism)
4. Geographical variation between races
• Applications/Anthropological significance of karyotype analysis:
• Chromosomal abnormalities that lead to disease in humans can be
identified using Karyotype analysis

NDU
Turner syndrome results from a single X chromosome (45, X or 45,
I
B
•

•
X0).

HIM A
Klinefelter syndrome, the most common male chromosomal disease,
otherwise known as 47, XXY is caused by an extra X chromosome.
• Edwards syndrome is caused by trisomy (three copies) of chromosome
18.
• Edwards syndrome is caused by trisomy (three copies) of chromosome
18.
• Down syndrome, a common chromosomal disease, is caused by
trisomy of chromosome 21.

INDU
Patau syndrome is caused by trisomy of chromosome 13.
B
•

HIM A
Also documented are trisomy 8, trisomy 9 and trisomy 16, although
they generally do not survive to birth.
• Some disorders arise from loss of just a piece of one chromosome,
including
• Cri du chat (cry of the cat), from a truncated short arm on
chromosome 5. The name comes from the babies' distinctive cry,
caused by abnormal formation of the larynx.

NDU
Angelman syndrome – 50% of cases have a segment of the long arm
I
B
•

HI
of imprinting disorder. A
of chromosome 15 missing; a deletion of the maternal genes, example
M
• Prader-Willi syndrome – 50% of cases have a segment of the long
arm of chromosome 15 missing; a deletion of the paternal genes,
example of imprinting disorder.
9.1 Human Genetics : Methods and Application: Methods for
study of genetic principles in man-family study (pedigree
analysis, twin study, foster child, co-twin method, cytogenetic
method, chromosomal and karyo-type analysis), biochemical
methods, immunological methods, D.N.A. technology and
recombinant technologies.
INDU
A B
1. Briefly describe the various methods used in the Genetic study

IM
H
of man. (2017, 20M)

2. Twin method in Human genetics (2013,10M)

• Note: Biochemical methods & immunological methods- Covered
in 9.6
INDU
A B
• D.N.A. technology and recombinant technologies – Covered in
IM
unit 12
H
 NDU
9.6. STUDY OF AGE, SEX AND
I
I A B
POPULATION VARIATION
M
H USING GENETIC MARKERS
GENETIC MARKER: A genetic marker isa gene or DNA sequence
with a known location on a chromosome that can be used to identify
individuals or species.
• Genetic markers are used,
•

INDU
For studying disease causing gene (Lethal gene) distribution in

B
different individuals or populations.
•

IM A
For studying age, a sex and population variation (polymorphism)
H
with respect to different genetic markers.
• For identification of individuals.
• Some genetic markers show sex variation, some show age variation,
and others show population variation.
1. RH BLOOD GROUP SYSTEM:
• Rh blood group system is a system for classifying blood
groups according to the presence or absence of the Rh antigen, often
called the Rh factor, on the cell membranes of the red blood cells
(erythrocytes).

NDU
• The designation Rh is derived from the use of the blood of rhesus
I
monkeys.

IM A B
H
• The Rh blood group system was discovered in 1940 by Karl
Landsteiner and A.S. Weiner. Since that time a number of distinct Rh
antigens have been identified, but the first and most common one,
called RhD, it causes the most severe immune reaction when the Rh
Positive blood is transfused to Rh negative person or when Rh
negative mother carries an Rh positive foetus.
• In such exposures, Rh negative person’s immune system produces
antibodies for the Rh antigen, they will attack the foreign red blood cells
having Rh antigen, causing them to clump together, or agglutinate. The
resulting hemolysis, or destruction of the red blood cells, causes serious
illness and sometimes death.

IN U
• Rh is most polymorphic. Currently, 61 antigens have been described in the
D
Rh group system; among those described, the D, C, c, E and e antigens are

IM B
more important, Rh D being the single most important and determining
A
factor for Rh positive phenotype.

H
• If the individuals have Rh D on their RBC, irrespective of the presence
or absence of the other Rh group antigens, the blood group can be
determined as Rh positive and absence of Rh D gives Rh negative
phenotype.
• The others are much less frequently encountered or are rarely clinically
significant.
• RH HAPLOTYPE NOTATIONS

Fisher-Race Wiener Blood group

Dce R0 Rh Positive
DCe R1

I DU
Rh Positive

N
DcE
DCE
IM
R2
RZ
A B Rh Positive
Rh Positive
dce
dCe
H R
rʹ
Rh Negative
Rh Negative
dcE rʺ Rh Negative
dCE rY Rh Negative
• Rhnull phenotype ( Golden blood):
• Rhnull individuals all the Rh antigens on their red blood cells (Not only Rh
D but all the 61 Rh antigens). This condition is rare. Red blood cells
lacking all Rh antigens have structural abnormalities and cell membrane
defects in RBC that can result in hemolytic anemia.

NDU
• Only 43 people were found to have the Rh null phenotype making it the
I
golden blood.

IM A B
• The occurrences of Rh-positive and Rh-negative factors in different
H
populations have racial significance.
• Among the Mongoloids Rh-negative is very rare. It occurs in 0.5 to 1.5%.
But among the whites its frequency is comparatively very high, being 15%.
On the other hand, among Negroes Rh negative factor occurs in 5 to 8% of
the population. Thus, Rh shows population variation.
• 2.ABO Blood group system:

INDU
IM A B
H
Ø Thus, ABO system shows population variation.
Ø Blood groups are considered as good genetic markers as the blood
group antigens are present in high concentration on RBC and

DU
blood group of individuals can be easily tested. Therefore, blood

IN
IM B
group testing can be used as a screening test in disputed paternity,
A
forensic investigation and can also be used in studying racial
differences.H
Ø The A & B antigens occur not only on red blood cells but also in
many other tissues.

U
Ø Two alleles, Se and se control the ability to secrete A, B antigens.

IND
The gene for secretion ability Se is dominant over se (nonsecretor).
B
HI A
These alleles are independent of those of ABO blood groups. If an
M
individual is a secretor, his blood group can be determined even from
saliva, sweat, urine etc. This fact plays a very important role in
forensic investigations.
• 3.HLA:
Ø HLA are proteins that are located on the surface of the white blood
cells and other tissues in the body.

U
Ø In humans HLA complex coding for MHC proteins are located on
short arm of 6th chromosome.
B IND
HIM A
Ø Genes are clustered in three regions namely MHC region, I, II & III
• MHC region I: comprises of three class I genes called HLA-A, HLA-
B & HLA-C, coding HLA-A, HLA-B & HLA-C proteins respectively.
MHC class I proteins are present on the surface of all nucleated cells,
present the antigen to CD8+ T cells.
• MHC II region: Comprises of three important genes namely DP, DQ
and DR, encoding DP, DQ and DR proteins respectively. MHC class II
proteins are located on the surface of Antigen presenting cells (APC),
presenting the antigen to CD4+ T cells.

Tumour necrosis factors etc.

IN U
• MHC III region: Comprises genes that code for complement factors,
D
M A B
Ø HLA is the highest polymorphic locus ever known. Each locus in
I
H
the MHC complex contains as many as 100 alleles. Each HLA
allele has a different numerical designation.
Ø HLA is inherited as a set of all these genes. This set is known as
haplotype.
• Each individual will have two haplotypes.
• There are a total of 4 different haplotype combinations from both the
parents.
Ø If two children inherit the same HLA from their parents, they are

DU
HLA match, while another child in the same family can inherit a

IN
IM B
different combination of HLA.

A
Ø Therefore each child has 25% chance of having the same two
H
haplotypes as any one of the siblings. 25% chance of not having any
one of the same haplotype of a sibling. And 50% chance of sharing
one haplotype with siblings. Thus, HLA shows population and
especially individual variations.
• Belo given is the inheritance pattern of multiple alleles of MHC with
respect to three important loci A,B and DR

INDU
IM A B
H
• 4.Gm ( Gamma marker) : allotypes located in the constant region of

NDU
IgG antibodies have been studied for over 40 years through serological
I
IM B
typing, leading to the identification of a variety of GM haplotypes
A
whose frequencies vary sharply from one geographic region to
H
another. Thus, Gm shows population variation.
 • IMMUNOGENETICS:
Ø Immunogenetics can be defined as the study that is concerned with the
molecular and genetic basis of the immune response.
Ø The discovery of the ABO blood groups in 1900 by Landsteiner and the

U
proof provided by von Dungern and Hirschfeld in 1911 that these blood

IND
groups are inherited formed the basis for the development of a separate
B
A
field of immunogenetics in the following years.

HIM
Ø The immune system consists of antigens and antibodies. The immune
reactions are highly specific and the antigens react only when they
come in contact with specific antibodies and this specificity works like
lock and key.
Ø ABO blood groups play an important role in blood transfusions because
blood can be given from one person to other only when there is
antigenic compatibility between the donor and recipient.
Donor blood Possibility for
Recipient blood group
group transfusion
A A and AB Yes
A B and O No
B B and AB
INDU Yes
B

IM A
A and O
B No
AB
AB* H AB
A, B and O
Yes
No
O** A, B, AB and O Yes

* Universal recipient, ** Universal donor

Ø The RH blood groups are important because they may cause
haemolytic disease in the RH D+ babies born to RH D- mothers. Rh
blood group plays an important role in blood transfusions. Rh
positive blood when transfused to Rh negative individuals, cause
agglutination of blood.

INDU
M B
Ø HLA / MHC is one very important aspect in the study of
A
Immunogenetics as the multiple allele combinations of HLA
I
H
determine whether a transplanted tissue /organ matches with the
recipient body or not.
Ø Immunogenetics also include the study of genes that code for
immunoglobulins (antibodies). One well studies example is Gamma
marker (Gm).
• 5. Hemoglobins
• Hemoglobins are ferroproteins in Red blood cells.
• Heme is a large organic molecule having an atom of iron.
• The protein part is globin, it is made up of four polypeptide chains
that are connected together.
INDU
A B
• The normal adult hemoglobin molecule contains two alpha-globulin

IM
H
chains and two beta-globulin chains.
• The function of hemoglobin is to carry oxygen from the lungs to the
body tissues and also to returns carbon dioxide from tissues back to
the lungs.
• In man there are at least four physiological hemoglobins. namely,
embryonic, fetal, adult and A2.
• In normal adults, however, embryonic hemoglobin is not present. because it
disappears by the third month of the embryonic life.
• Fetal hemoglobin is the normal hemoglobin during intrauterine period and
composes more than half of the total hemoglogin in the newborn. But
after birth it is replaced by adult hemoglobin and by the age of two years it
almost completely disappears.

INDU
also.
IM B
• However, a small amount (less than 1 percent) Is retained by the adults
A
H
• Normal Adult hemoglobin: Hemoglobin A- constitutes the major portion
of hemoglobin (98%), and hemoglobin A2. a minor portion of it (2%).
• a- globin gene cluster is found in chromosome 16 and it includes genes that
code for a (alpha) and z (zeta) Hemoglobin subunits.
• b globin gene cluster is found in chromosome 11and it includes genes that
code for b (beta), g (Gamma), d (delta), e (epsilon) Hemoglobin subunits.
 INDU
IM A B
H
• Hemoglobin S (HbS):
• (ss) - enlarged spleen, rheumatism, impaired mental function besides anemia. Among
them mortality rate is high.
• Haemoglobin S = beta chain, where in the sixth position a glutamic amino acid

NDU
is substituted by valine (beta 6 Glu → Val).

I
A B
• The gene for hemoglobin variant S is frequent in some population groups of tropical

IM
H
Africa and India, also in their descendants who live in other parts of the world.
• The highest frequency (10 to 40 percent individuals) of the sickle cell trait is
observed in tropical Africa. It is quite high (5 to 30 percent) among certain
populations of India, Greece and Southern Turkey. In lower frequencies (less
than 10 percent) It is found in some populations of Algeria, Sicily, Tunisia and
Palestine, that is, around the Mediterranean.
• The presence of sickle cell trait has not been reported from among
the people of northern Europe, most of Asia and Australia. It is not
found In the New World except among the descendants of persons
migrated from the Old World.
• hemoglobin S gene may have originated as a mutation in East Africa.

DU
From there it spread to West Africa and other places. It is very likely
IN
elsewhere.
IM B
that mutation occurred in India also and spread from there to
A
H
• Malaria and S: This malaria-sickle cell hypothesis has been put for-
ward by Allison on the basis of three indirect evidences. One the
distribution of HbS and that of malaria coincide in Africa. Two, the
sicklers possess small number of parasites than the non sicklers,
when both have malaria. Three, it is experimentally demonstrable
that sicklers are less susceptible to malaria than the nonsicklers.
• Hemoglobin E (HbE):
• Hemoglobin E an anomaly in the beta chain (beta 26 Glu → Lys).

U
• It is widely distributed the east Asia, Thailand, Indonesia etc. It

IND
has been reported from Sri Lanka also.

B
HI A
• It is very common in some populations of northeast India,
M
especially Assam, Meghalaya and North Bengal. As a matter of
fact, the highest frequency has been reported from Assam.
• HbE polymorphism is maintained by heterozygous advantage
through protection against malaria.
• Hemoglobin C (HbC): (beta 6 Glu → Lys)
• Clinically the heterozygotes are asymptomatic

U
• The homozygotes are also usually asymptomatic, but may develop

IND
abdominal and joint pains, jaundice, hemorrhagic pneumonia and
B
A
moderate anemia.

HIM
• Hemoglobin C is frequently found in some population of West Africa
and their descendants elsewhere. In certain areas it is found in 20
percent. Attempts have been made to associate malaria with HbC
also.
• Thalassemia:
• The term thalassemia has been derived from two Greek words
(thalassa = sea and haima = blood, meaning anemia occurring near
the sea).

U
• It is called Mediterranean anemia also, because it frequently occurs

IND
in Greece, Italy. Sicily, Armenia and some other countries near the

B
shores of the Mediterranean.

IM A
• It is referred to as Cooley's anemia also after the name of the
H
physician who first described it fully.
• It is a disorder of hemoglobin synthesis.
• Thalassemia can be divided into - b and a thalassemia.
• b - thalassemia may be of two types, thalassemia major (tt) and
thalassemia minor (Tt).
• Thalassemia major is a lethal hemolytic anemia. Symptoms include
enlarged spleen and liver, jaundice, decreased count of RBC, etc. The
thalassemia minor causes mild anemia.
• heterozygote advantage of protection against Malaria is the reason
for maintaining thalassemia in balanced polymorphism.

INDU
1. Glucose-6-phosphate-dehydrogenuse (G6PD): is a red cell enzyme,

A B
which normally metabolizes glucose in the red blood cells. Some
IM
H
persons are deficient of this enzyme. The condition is called G6PD
deficiency.
• Individuals with such G6PD deficiency are met with In Africa,
southeast Asia, Indonesian archipelago, Burma, India and some
countries bordering the Mediterranean Sea.
• The distribution of G6PD deficiency can be correlated with that of
falciparum malaria. It is noted that individuals with G6PD deficiency

INDU
are better protected against malaria infection.

IM B
• G6PD deficiency is inherited. It is a X-linked recessive trait.
A
Homozygous females are clearly deficient. But heterozygous females
H
show various degrees of deficiency or none at all. Therefore, it
appears to be incompletely dominant.
• GENETIC MARKERS IN PLASMA (SERUM PROTEIN)
• Both plasma and serum are the fluid portion of blood. They contain
several soluble proteins. Most of the components are same in both
plasma and serum. (Serum = plasma – clotting factors.
• Haptoglobin (Hp):

INDU
A B
• It is the protein that in humans is encoded by the HP gene.

IM
H
• In blood plasma, haptoglobin binds free hemoglobin (Hb) released
from erythrocytes with high affinity and thereby inhibits
its oxidative activity.
• The haptoglobin-hemoglobin complex will then be removed by the
reticuloendothelial system (mostly the spleen).
• Haptoglobin is alpha-globin. It combines with hemoglobin in the
plasma. But by electrophoresis it can easily be identified.
• There are essentially three different types of haptoglobin, such as,
Hp 1-1, Hp 1-2 and Hp 2-2, It is coded by one gene with two alleles,

DU
namely, Hp1 and Hp2 are involved.

IN
HP1 and Hp2.
IM B
• Hp1-1 and Hp 2-2 are homozygous, while Hp 1-2 is heterozygous of
A
H
• These two are codominant autosomal alleles.
• The two alleles follow Mendelian principle of inheritance.
• Among some populations of Central and West Africa as well as of
Central South America Hp1 gene occurs in very high frequency.
• Transferrin (TF):
• Transferrins are iron-binding blood plasma glycoproteins that control
the level of free iron in biological fluids. Human transferrin is
encoded by the TF gene.

DU
• Transferrin glycoproteins bind iron tightly, but reversibly.

IN
IM A B
• Although iron bound to transferrin is less than 0.1% (4 mg) of total
body iron, it forms the most vital iron pool with the highest rate of
H
turnover (25 mg/24 h).
• Transferrin has a molecular weight of around 80 KDa and contains
two specific high-affinity Fe(III) binding sites. The affinity of
transferrin for Fe(III) is extremely high but decreases progressively
with decreasing pH below neutrality.
• When not bound to iron, transferrin is known as "apo transferrin"
• Transferrins are part of beta globins. They have chemical property of
binding iron. The important function of these proteins is to transport
oxidized iron to the bone marrow and other tissues.

NDU
• Several molecular varieties of transferrin have been identified. Each
I
IM B
one is nondominant autosomal allele located in the same locus. The
A
most common is the C type (TFC) in all populations of the world.
H
• Albumin: Albumin is a serum protein. It shows several polymorphic
varieties, which have been reported from different populations.
• Others: There are several other serum proteins. e.g., Group specific
component (Gc). Alkaline phosphate, Ceruloplasmin. Gm system,
Inv system. etc.
9.6 Age, sex and population variation as genetic marker-

NDU
ABO, Rh blood groups, HLA Hp, transferring, Gm, blood
I
IM B
enzymes. Physiological characteristics Hb level, body fat,
A
pulse rate, respiratory functions and sensory perceptions in
H
different cultural and socio-economic groups.
1. Rh-Blood Group (2016,10M)

IN U
2. What do you understand by Immunogenetics? Explain with
D
suitable examples. (2015,15M)

M A B
3. What are genetic markers and what is their usefulness? Why
I
H
are blood groups considered as good genetic markers?
Illustrate with examples. (2013,15M)
9.5 RACE CONCEPT
INDU
IM A B
H
9.5.2. BIOLOGICAL BASIS OF

DU
MORPHOLOGICAL VARIATION OF NON
IN
IM B
METRIC AND METRIC CHARACTERS /
A
BIOLOGICAL BASIS OF RACIAL
H
CLASSIFICATION
• Biologically race can be defined as “An informal rank in taxonomic
hierarchy below the level of subspecies”. Races may be genetically
distinct populations within the same species.
1. Skin Colour
INDU
M A B
• Broadly speaking, three shades of skin colour are seen in man.
I
H
• (i) Leucoderms or white-skinned people.
• (ii)Xanthoderms or yellow-skinned people.
• (iii)Melanoderms or black-skinned people.
• We can assume that the earliest men had neither black nor white skin
but of intermediate shade that may be brown or yellow- brown or so.
At this stage the genes for skin colour were changed by mutation
producing varieties of skin colour. Those who were best protected
from the sunrays were selected by nature and thus gradually became

U
dominant and outlived the rest, which ultimately made that particular

I
group of people black-skinned.

B ND
HI A
2. Hair Based on the hair form humans can be classified in to
M
• (a) Leiotrichous or smooth form under dry, cold conditions. It may
again be divided into
• Stretched hair, which is usually straight, coarse and stiff.
• Smooth hair which is thinner and soft.
• Wavy hair with a tendency to become wavy.
(b) Cymotrichous of wavy form under the intermediate conditions. It
can be divided in to
• Broad wavy— waves are broad and lie in one plane;
• Narrow wavy— short, strongly curved .waves lying in one plane;
• Curly—large spirals, not lying in one plane.

DU
(c) Ulotrichous or woolly form. warm, moist climatic conditions.

IN
M B
• Hair Texture. Texture of hair may be coarse, medium or fine. For
A
proper estimation of thickness of hair, a microscopic study should be
I
H
made. Garn found that thickness of human hair varies between 25 µ
and 125 µ. and he classified hair into the following categories based
on the thickness/texture.
• Fine hair - 56 µ
• Medium hair - 57- 84 µ
• Coarse hair - 85 µ +
3. Head Form
• Length breadth Index (C.I) Breadth of head X 100
Length of Head
• Classification (According to Martin)

INDU
Hyper dolichocephalic (very long and narrow) 69.9

IM A B
H
Dolichocephalic (long and narrow)
Mesocephalic (medium)
Brachycephalic (short and broad)
70.0-75.9
76.0-80.9
81.0-85.5
Hyperbrachycephalic (very short and broad) 85.6
 4. Face

Morphological facial Index

= Morphological facial length X 100
Bizygomatic breadth
INDU
IM A B
Hyper euryprosopic (very broad face) 78.9
H
Euryprosopic (broad face)
Mesoprosopic (medium face)
79.0 − 83.9
84.0 − 87.9
Leptoprosopic (narrow face) 88.0 − 92.9
Hyper Leptoprosopic (very narrow face) 93.0
5. Nose
• Nasal Index = Nasal Breadth X 100
• Nasal length

Classification
INDU of living

IM A B
Hyperleptorrhine (very narrow 54.9
nose
H
Leptorrhine (Narrow nose)
Mesorrhine (Medium nose)
55.0—69.9
70.0—84.9
Platyrrhine or Chamaerrhine 85.0—99.9
(broad nose)
6. Eye
• Hooton has distinguished "only two sharply contrasted varieties of
eyes in modern man—the Mongoloid eye and the non-Mongoloid
eye."

DU
• In typical Mongoloid eye epicanthic or complete Mongoloid fold (a

IN
B
fold of skin at the eyelid extending from its outer corner to the inner

HI A
corner. This is very often described as the Mongolian eyelid).
M
• A very common variety of eye fold is inner epicanthus or epicanthic
or simply "Mongoloid fold" where the fold covers the inner angle of
the eye and may extend on to the cheek.
 INDU
IM A B
H
 INDU
IM A B
H
 INDU
IM A B
H
7.Stature
• Martin has demonstrated that the German youth, being
undernourished during First World War and Post-war periods shows
stunted stature.

IN U
• Shapiro in his study of Japanese immigrants into Hawaii has also
D
found an increase of stature under different environmental conditions.

A B
• Sarkar also noticed that Garos—where the Plains Garos are taller

IM
H
than the Hill Garos (probably due to less energy availability at high
altitude).
• Torday found that pygmies left their forest country and led a settled
life practising agriculture. After two generations they became
significantly taller. Torday thinks that free air, sunshine and regular
life are the main factors to bring about changes in stature.
8.Blood-Groups

INDU
IM A B
H
9.Dermatoglyphics / Fingerprint patterns:
• Henry has classified the various finger patterns into four main types.
These are: arches, loops, true whorls and composites. The composites
form a heterogeneous assemblage of patterns. Again, three types have

IN U
been identified by Galton. His three types are arches, loops and
D
whorls. A loop may be open to the ulnar side or to the radial

IM A B
H
• side and accordingly it is termed as ulnar or radial loop. The classic
and widely used notation is A = arches; Lr = radial loops; Lu =
ulnar loops; and W = whorls. The whorls possess two tri-iradii,
while only one triradius is present in loops. Triradius is absent in

the occurrence of triradius.

IN U
arches. Thus, generally speaking, the patterns may be identified from
D
A B
• Finger patterns exhibit racial variation as shown in the table below.
IM
• Population
• Mongoloid
H Whorls
40 to 50
Loops
50 to 60
Arches
1 to 2
• Caucasoid 20 to 30 60 to 70 4 to 7
• Negroid 30 50 to 60 9 to10
• It is evident from the table that whorls are most frequent among the
Mongoloid population and least among the Caucasoid population.
• loops appear most frequently among the Caucasoid groups, while among
the Mongoloid and Negroid groups loops are found in equal frequencies.
• arches appear in very small number in the Mongoloid. It is most frequent in

IN U
the Negroid. The position of the Caucasoid is intermediate.

D
• Usually three indices are calculated on the basis of the frequency

IM A B
distribution of the different finger patterns. These are as follows
• Furuhata’s Index = Whorls X 100
H Loops
• Dankmeijer’s Index = Arches X 100
Whrols
• Pattern Intensity Index = 2 X Whorls + Loops
N
Character Caucasoid Negroid Mongoloid
Skin colour Light reddish white Brown to brown Light yellow to
to olive brown. some black. some are yellow brown.
are brown.

INDUyellow brown some are reddish

B
brown
Head hair

HIM A
Light blond to dark
brown colour, Fine to
medium in texture.
Brown Black in
colour. Coarse in
texture. Curly to
Brown to brown
black in colour.
Coarse in texture.
Straight to wavy in frizzly or woolly in Straight in form
form form Circular cross
Oval cross section section
Eye Colour is light blue Brown to brown Brown to dark brown.
to dark brown black Mongoloid eye fold is
very often present.

Head form Dolichocephalic to

INDU
Predominantly Predominantly
Brachycephalic.

IM A B Dolichocephalic. Brachycephalic.

Face H
Narrow to medium
broad
Medium broad to
narrow.
Medium broads to
very broad.
Prognathism is Cheek bones are high
very often present. and flat.
Body hair Moderate to Slight Sparsely
profuse distributed
Nose Leptorrhine to Platyrrhine. Mesorrhine to
mesorrhine.

INDU Usually bridge is platyrrhine.

B
Usually bridge is low Usually bridge is

Stature
H
high

IM A
Medium to tall
low to medium
Very short to tall Medium to short

Rh factor Highest Moderate Rh negative is

frequency of Rh frequency of Rh rare.
negative negative
• Scientific understanding of race concept provides a theoretical
background to fight against racism or racial discrimination. For
instance understanding the fact that the dark skin complexion protects
the African Negroids from skin cancers and the broad nose in them

IN U
prevents excessive heating of the lungs etc conveys that no trait is
D
either inferior or superior to the other, rather they are adaptations to

A
the environmental conditions.

IM B
H
• The concept of race has been misinterpreted. For proper interpretation
of race concept, we need to know what are the valid racial traits
(Racial criteria) and what are not. For instance intelligence is not a
racial criteria as there are no standard IQ tests that can compare the IQ
levels of different populations due to their cultural and developmental
differences.
1Q. RACE IS A MYTH, JUSTIFY IN THE PRESENT CONTEXT?
(2018)
• A 19th century American Doctor, Samuel Morton believed that people
could be divided into five races and that these represented separate

DU
acts of creation. Based on “craniometry” , he claimed, that
IN
M A B
• Whites, or “Caucasians,” were the most intelligent of the races.
I
H
• East Asians or “Mongolian” were one step down.
• Next came Southeast Asians,
• Followed by Native Americans.
• Blacks, or “Ethiopians,” were at the bottom.
• In the decades before the Civil War, Morton’s ideas were quickly
taken up by the defenders of slavery. Today Morton is known as the
father of scientific racism. So many of the horrors of the past few

INDU
centuries can be traced to the idea that one race is inferior to another.
To an uncomfortable degree we still live with Morton’s legacy: Racial

A B
distinctions continue to shape current politics.
IM
H
• Over the past few decades, genetic research has revealed two deep
truths about people. The first is that all humans are closely related—
more closely related than all chimps. Second, in a very real sense, all
people alive today are Africans.
• Our species, Homo sapiens, evolved in Africa—no one is sure of the
exact time or place. The most recent fossil find, from Morocco,
suggests that anatomically modern human features began appearing as
long as 300,000 years ago. For the next 200,000 years or so, we
remained in Africa, but already during that period, groups began to

INDU
move to different parts of the continent and become isolated from one
another—in effect founding new populations.

M A B
• Robert Wald Sussman, in his book “ The myth of race: The
I
H
troubling persistence of an unscientific idea” stated that “ Race is
not, and never has been a valid biological category in humans”
Scientific racism ( Race biology) is a pseudo scientific belief that
empirical evidences for racial differences exists. It leads to Racism.
There is not a single biological element unique to any of the human
groups. Today main stream belief among scientists is that race is a
social construct without biological meaning.
• Holocaust was a genocide in which Nazi Germany systematically
killed around 6 million European jews ( 2/3 rd of the Jewish
population in Europe). Between 1941 and 1945 ( During world war-
II). Nazi came to power in Germany in 1933. They believed that

U
Germans were racially superior and Jews were inferior.

IND
• Jews were the primary victims of Nazi racism but other victims
B
HI A
includes like, Roma ( Gypsies) and people with mental and physical
M
disabilities. Killing canters / Extermination camps/Gas chambers were
established. This a glimpse of the possible horrors of the scientific
racism. (Note: Also an example for negative Eugenics).
• The first to challenge the concept of race on empirical grounds was
the anthropologist Franz Boas, who provided evidence of phenotypic
plasticity (Easily shaped ) due to environmental factors.
• Montagu was probably the most vocal opponent of the use of the term
race to classify humans. Following Huxley, Deniker.
• Montagu (1942a) adopted the term “ethnic group” as a replacement
for “race”.

INDU
IM B
• Subsequently, on July 18, 1950, following World War II, UNESCO
A
issued a statement which included both a scientific opposition to race
H
theories and a moral condemnation of racism and suggested to replace
the term ‘race’ as ‘ethnic group’.
2Q. EXPLAIN THE ROLE OF HEREDITY AND
ENVIRONMENT IN THE FORMATION OF RACES. (2016,15M)
• Race formation is a complex process where several factors are
involved. These may be summarized as:

INDU
• 1) Mutation: The basic mechanism through which genetic variability

A
is introduced is mutation.

IM B
H
• 2) Natural selection: With natural selection advantageous genes are
multiplied more rapidly than the disadvantageous genes, as the latter
will be eliminated by nature. E.g. Dark skin complexion, broad nose
& Ulotrichous hair in Hot climate.
• 3) Migration helps in isolation.
• 4) Genetic Drift: Chance fluctuations of gene frequencies may lead
to appreciable genetic differences between completely isolated sub-
populations. E.g. Epicanthic eye fold in Mongoloids is most likely
due to Founder effect.

INDU
B
• 5) Isolation: Isolation may be geographical or social and is considered

HIM A
to be a great race maker. The natural selection and genetic drift, will
act effectively only when a particular population is isolated from the
neighbouring populations.
• 6) Hybridization: Hybridization is a process by which genes are
introduced into other populations resulting in formation of new race. It
is an ongoing process.
• 7) Sexual selection: It is a process of selecting mates on the basis of
some preferred qualities, as a result of which the sexually preferred
type would become the dominant variety of the individuals and the
other type may eliminate or emerge as a different group.

DU
• 8) Social Selection: In social selection, breeding is regulated by

IN
B
artificially instituted barriers between the groups. In such situations

HIM A
strong isolating mechanisms are developed which in due course may
produce major differences between different groups.
• Thus, it may be stated that mutation, natural selection, genetic drift,
migration, isolation, hybridization, sexual selection and social
selection, etc., are the main processes responsible for the formation
of racial strains.
3. with reference to the somatoscopic and morphometric
characteristics commonly used for racial classification, make
critical comments as to whether ‘race’ is a valid concept.
(2019,20m)

INDU
IM A B
4. Concept of Race. (2017,10M)

H
5. Differentiate between race and racism. What are the three
major races of the world? Give important biological criteria used
frequently for such a classification (2013,15M) also in 2010
 U
9.5 Race and racism, biological basis of morphological

ND
variation of non-metric and metric characters. Racial

B I
A
criteria, racial traits in relation to heredity and

IM
environment; biological basis of racial classification,
H
racial differentiation and race crossing in man.
RACIAL DIFFERENTIATION AND RACE CROSSING IN MAN
• NEGROID
• The Negroids are divided into
• (1) African Negro
• (2) Oceanic

INDU
• African Negro

IM A B
• In this subdivision of the Negroids the following main groups may be
H
distinguished—
• True Negroes : The True Negroes are distributed in West Africa,
and in Guinea coast.
• Nilotic Negroes or Nilote : distributed in the region of Upper Nile
Valley and Eastern Sudan.
• Bantu-speaking Negroid or 'Bantu': Central and Southern Africa.
They are mixed up with Hamitic. Negrillo and Bushmen-
Hottentot elements.
• Bushmen Hottentot : South west Africa

DU
• Negrillo ( African Pigmy): e.g.. Congo region of Equatorial

IN
B
Africa, Malay Peninsula, Sumatra, Andaman islands. Philippine.

HIM A
New Guinea. etc. According to their geographical dis¬tribution
they may be grouped into three classes,
v African pygmy or Negrillo,
v Oceanic and
v Asiatic Pygmy. The last two are known as Negrito
• MONGOLOID
• The Mongoloids may be subdivided into four main sub-
divisions on the basis of their geographical distribution. They
are as follows :

INDU
• The Classic or Central Mongoloid,

M A B
• The Arctic or Northern Mongoloid or Eskimoids,
I
H
• The Southern or lndo-Malayan Mongoloids and
• The American Indians.
• CAUCASOID
• Many ethnic groups come under this division of mankind. Here are
some of the most representative types.
• Mediterranean: widely distributed in Portugal, Spain, France, Italy,

DU
Grece, Turkey ; and parts of North Africa, Arabia, Iran, Afghanistan ,

IN
B
and India.

IM A
• Nordic: The Scandinavians are considered to be the typical
H
representative. This type is common in the Baltic region, Northern
Germany. Northern France. parts of Netherlands and Belgium, British
Island, etc.
• East Baltic: Their concentration is seen in North Eastern Germany,
Poland, Baltic States, Russia, Finland etc.
• Alpine: Concentration of the Alpines is seen in Central Europe along a
line extending from France to the Urals, Denmark. 'Norway, Northern
Italy, in the mountains of Asia Minor, etc. The Alpines show a good
deal of admixture with two Alter racial types—Nordics and

U
Mediterraneans.

IND
• Dinaric (Adriatic or Illyrian): They are distributed in Dinaric Alps
B
HI
Central Europe. A
region in Yugoslavia, Albania, Austrian Tyrol and sporadically in
M
• Armenoid: Their concentration is found in Turkey. Syria, and
Palestine. This type is seen in Iraq. Iran and Balkan countries.
• Keltic: seen in England and many parts of western Europe.
• Lapp: The Lapps are distributed in Northern Scandinavia. Sweden.
Northern Finland, Norway and north-western region of Russia.
• Indo-Dravidian (Dravidian): They are concentrated in South India

INDU
and Central India. The Indo-Dravidians are predominantly Caucasoid.
Among them, an admixture of Classic Mediterranean and Australoid
(Veddoid) is seen.
IM A B
H
• Polynesian: The Polynesians live in Polynesian islands of the Pacific,
e.g.. New Zealand, Friendly Islands. Samoa, Society, Marquesas.
Hawaii.The Polynesians are a composite race. They are essentially a
white people but they have mixed with Mongoloid peoples.
• Ainu : seen in Northern Japan. Yezo and south Sakhalin. The Ainus
represent a very ancient stock of Japan. hey are predominantly

DU
Caucasoid. but a considerable amount of Mongoloid admixture is seen

IN
M B
among them. Again they closely resemble the Australian aborigines

A
also in respect of many characters. Therefore, some writers incline to
I
H
include them with the Australoid or Archaic Caucasoid group.
 IN D U
9.7. CONCEPTS AND METHODS

IM A B
OF ECOLOGICAL ANTHROPOLOGY
H --HIMABINDU
ADAPTING TO CLIMATE EXTREMES :
• The normal temperature for humans is about 98.6° F. (37.0°
C.). However, individual differences in metabolism , hormone
levels, physical activity, and even the time of day can cause it to be

INDU
as much as 1° F. (.6° C.) higher or lower in healthy individuals.

IM A B
Hypothermia begins to occur when the core body temperature

H
•

drops to 94° F. (34.4° C.).

• Below 85° F. (29.4°C.), the body cools more rapidly because its
natural temperature regulating system (in the hypothalamus )
usually fails.
• The now rapid decline in core body temperature is likely to result
in death. However, there have been rare cases in which people
have been revived after their temperatures had dropped to 57-60° F.
(13.9-15.6° C.). This happened in 1999 to a Swedish woman who

INDU
was trapped under an ice sheet in freezing water for 80

B
minutes. She was found unconscious, not breathing, and her

HIM A
heart had stopped beating, yet she was eventually revived
despite the fact that her temperature had dropped to 56.7° F.
(13.7° C.).
• In extremely hot climates or as a result of uncontrollable infections,
core body temperatures can rise to equally fatal levels. This is
hyperthermia.
• Life threatening hyperthermia typically starts in humans when

DU
their temperatures rise to 105-107° F. (40.6-41.7° C.).

IN
•

IM A B
Body size and shape are significant factors in how efficiently an

H
individual responds physiologically to cold and hot climates. Two
19th century naturalists, Carl Bergmann and Joel Allen,
formulated rules concerning these factors.
Adaptation
Organism’s ability to change
its physical and chemical
makeup to adjust to its
habitats
Acclimatization
Adjustment that an organism
undergoes when transferred to a
different habitat by physiological

I DU
reactions

N
Takes long time

IM
Usually effects the whole
A B Takes short time
Effects only individuals

H
group to which it belongs
Having evolutionary
significance.
Not having evolutionary
significance but only individual
significance.
• BERGMANN'S RULE
• In 1847, the German biologist Carl Bergmann observed that within the
same species of warm-blooded animals, populations having less
massive individuals are more often found in warm climates near the

NDU
equator, while those with greater bulk, or mass, are found further from
I
A B
the equator in colder regions.

IM
•

H
This is due to the fact that big animals generally have larger body
masses which result in more heat being produced. The greater amount
of heat results from there being more cells. A normal byproduct of
metabolism in cells is heat production. Subsequently, the more cells
an animal has, the more internal heat it will produce.
• In addition, larger animals usually have a smaller surface area
relative to their body mass and, therefore, are comparatively
inefficient at radiating their body heat off into the surrounding
environment.

INDU
B
Polar bears are a good example of this phenomenon. They have

A
•

HIM
large, compact bodies with relatively small surface areas from
which they can lose their internally produced heat. This is an
important asset in cold climates. In addition, they have heavy fur
and fat insulation that help retain body heat.
• Bergmann's rule generally holds for people as well. A study of
100 human populations during the early 1950's showed a
strong negative correlation between body mass and mean
annual temperature of the region.

INDU
However, there are exceptions. Our clothing and technologies that
B
•

HIM A
allow us to keep buildings warm in the winter and cool in the
summer tend to offset the effects of natural selection now in
shaping our bodies somewhat counter Bergmann's rule for
humans.
 ALLEN'S RULE
• In 1877, the American biologist Joel Allen went further than Bergmann
in observing that the length of arms, legs, and other appendages also
has an effect on the amount of heat lost to the surrounding

NDU
environment. He noted that among warm-blooded animals, individuals

I
A B
in populations of the same species living in warm climates near the

IM
H
equator tend to have longer limbs than do populations living further
away from the equator in colder environments. This is due to the fact
that a body with relatively long appendages is less compact and
subsequently has more surface area. The greater the surface area, the
faster body heat will be lost to the environment.
• This same phenomenon can be observed among humans. Members
of the Masai tribe of East Africa are normally tall and have
slender bodies with long limbs that assist in the loss of body
heat.

DU
• This is an optimal body shape in the hot tropical parts of the world but it

IN
B
would be a disadvantage in subarctic regions. In such extremely cold

HIM A
environments, a stocky body with short appendages would be more
efficient at maintaining body heat because it would have relatively less
surface area compared to body mass.
• We lose heat to the surrounding environment in several ways, However,
simple radiation is the process that is responsible for most of the loss,
except in hot dry climates where evaporative cooling, or sweating, can
be more significant.
COLD CLIMATE RESPONSES
• Many people living in freezing climates drink alcohol to warm
themselves.
This increases blood flow to the body extremities, thereby

DU
•

A B IN
providing a feeling of warmth. However, it results only in a
temporary warming and can speed up the loss of heat from the vital

HIM
internal organs, resulting in more rapid death from hypothermia.
• A much more effective cultural response to extremely cold
temperature is the use of insulating clothing, houses, and fires.
• People all over the world also adapt by limiting outdoor activities to
warmer times of the day.
• In some societies, sleeping in family groups with bodies pushed up against
each other is also done in order to minimize heat loss during the cold
months of the year.
Ø increased basal metabolic rate

U
Ø fat insulation of vital organs
Ø change in blood flow patterns
B IND
IM
Ø New blood vessel formation

H A
Ø Increases in Haemoglobin levels
Ø Increase in RBC count
Ø Shivering can also cause a short-term warming effect by increased muscle
activity resulting in some heat production.
Ø Increased respiratory values, size of the lungs, pulse rate, heart
beat, blood pressure
• People living in harsh subarctic regions, such as the Inuit

U
(Eskimo) of the far northern regions of the western hemisphere

IND
and the Indians of Tierra del Fuego at the southern end,
B
HIM A
traditionally consumed large quantities of high calorie fatty
foods. This significantly increases the basal metabolic rate, which,
in turn, results in the production of extra body heat. These peoples
also wore heavy clothing, often slept in a huddle with their bodies
next to each other and remained active when outdoors.
 The Ju/'hoansi of Southwestern Africa and the Aborigines of
Australia usually respond physiologically to the cold in a different
way. Thick fat insulation develops around the vital organs of the
chest and abdomen.
In addition, their skin cools due to vasoconstriction at night. As a

U
•

D
result, heat loss is reduced and the core body temperature remains at

B IN
normal levels. However, the skin feels very cold.

A
•

HIM
This response would not be adaptive if the Ju/'hoansi and the Aborigines
lived in consistently freezing environments because the concentration of
body heat in their torsos would allow the loss of fingers, toes, and other
appendages from frostbite. The loss of fingers in particular would make
it difficult for these hunters and gatherers to acquire food. Their
physiological adaptation is to environments that rarely stay below
freezing long and that do not have abundant high calorie fatty foods.
ADAPTING TO HIGH ALTITUDE
• There are two major kinds of environmental stresses at high altitude for
humans. First, there are the alternating daily extremes of climate that
often range from hot, sunburning days to freezing nights. In addition,

DU
winds are often strong and humidity low, resulting in rapid dehydration.

IN
•

IM A B
Second, the air pressure is lower. This is usually the most significant

•
H
limiting factor in high mountain regions.
The percentage of oxygen in the air at two miles (3.2 km.) is essentially
the same as at sea level (21%). However, the air pressure is 30% lower
at the higher altitude due to the fact that the atmosphere is less dense that
is, the air molecules are farther apart.
• At high altitudes, the lower air pressure makes it more difficult for
oxygen to enter our vascular systems.
• The result is hypoxia, or oxygen deprivation. Hypoxia usually
begins with the inability to do normal physical activities, such as

DU
climbing a short flight of stairs without fatigue.
IN
•

IM A B
Other early symptoms of "high altitude sickness" include a lack

H
of appetite, vomiting, headache, distorted vision, fatigue, and
difficulty with memorizing and thinking clearly.
• In serious cases, pneumonia-like symptoms (pulmonary edema )
due to hemorrhaging in the lungs and an abnormal accumulation of
fluid around the brain (cerebral edema ) develop.
• Pulmonary and cerebral edema usually results in death within a few days
if there is not a return to normal air pressure levels.
• There is also an increased risk of heart failure due to the added stress
placed on the lungs, heart, and arteries at high altitudes.
•

INDU
On returning to sea level after successful acclimatization to high altitude,

IM B
the body usually has more red blood cells and greater lung expansion
A
capability than needed. Since this provides athletes in endurance sports
H
with a competitive advantage, the U.S. maintains an Olympic training
center in the mountains of Colorado. Several other nations also train
their athletes at high altitude for this reason. However, the
physiological changes that result in increased fitness are short term at low
altitude. In a matter of weeks, the body returns to a normal fitness level.
 WHO IS MOST LIKELY TO HAVE HIGH ALTITUDE
SICKNESS?
• The populations that are most successful are those whose ancestors
have lived at high altitudes for thousands of years. This is the case with

IN U
some of the indigenous peoples living in the Andes Mountains of

D
Peru and Bolivia as well as the Tibetans and Nepalese in the

A B
Himalaya Mountains. The ancestors of many people in each of

IM
H
these populations have lived above 13,000 feet (ca. 4000 meters) for
at least 2,700 years.
• The primary solution of Indians from the high mountain valleys in Peru
and Bolivia has been to produce more hemoglobin in their blood and to
increase their lung expansion capability. Both result in an increase of
oxygen carried by the blood.
• In contrast, the common solution of Tibetans and Nepalese who live at high
altitudes generally has been to breathe faster in order to take in more oxygen
and to have broader arteries and capillaries, thereby allowing much higher
rates of blood flow and subsequently greater amounts of oxygen delivered to
their muscles, despite the fact that they have relatively normal hemoglobin
levels.

INDU
•

IM B
A recent study of Tibetan villagers who live their lives at around 15,000 feet
A
has shown that they have 10 oxygen-processing genes not commonly found

H
in lowland populations. The EPAS1 gene is particularly important in
adapting to environments with consistently low oxygen pressure.
• Those individuals who have low expression levels of the PDP2 gene generally
have more severe symptoms. This gene codes for a protein that assists in the
conversion of food into fuel for our bodies. In some way, it apparently also
helps in acclimatization to low oxygen pressure.
 • Journal of Epidemiology & Community Health, researchers from the
Harvard School of Global Health reported that people generally live
longer at high altitudes and have a lower risk of dying from coronary
artery disease.
HOT CLIMATE RESPONSES

NDU
We do not grow dense fur coats nor do we usually have thick layers of fat
I
B
•

insulation like polar bears. Despite this reality, more people die from heat

• IM A
than cold in the United States every year.

H
The effect of heat on our bodies varies with the relative humidity of the
air. High temperatures with high humidity make it harder to lose excess
body heat. This is due to the fact that when the moisture content of air
goes up, it becomes increasingly more difficult for sweat to
evaporate. The sweat stays on our skin and we feel clammy. As a result,
we do not get the cooling effect of rapid evaporation.
• In dry, hot weather, humidity is low and sweat evaporates readily. As a
result, we usually feel reasonably comfortable in deserts at temperatures
that are unbearable in tropical rain forests. The higher the desert
temperatures, the more significant of a cooling effect we get from
evaporation.
•

INDU
But the drawback is the rapid loss of water and salts from the body

B
through sweat. This can be fatal in less than a day if they are not replaced.
•

IM A
It is common to lose a quart or more of water through sweating each hour

H
in harsh summer desert conditions.
• Commercial "sport drinks" are designed to help people in these situations
rehydrate and replenish lost mineral salts. Diluted lemonade with added
salt can satisfactorily serve the same purpose.
• Most people have the ability to physiologically acclimatize to hot
conditions over a period of days to weeks.
• The salt concentration of sweat progressively decreases.
• the volume of sweat increases.
• Urine volume also reduces.
•

INDU
Vasodilation of peripheral blood vessels causes flushing, or

IM B
reddening, of the skin because more blood is close to the
A
surface. That blood brings heat from the core body areas to the
H
surface where it can be dissipated easily into the environment by
radiation.
• Evaporative cooling also plays an important protective role when
vigorous physical activity results in overheating of the body.
• Researchers at Osaka International University and Kobe University
in Japan have discovered recently that men generally are more
effective at sweating than women when they do strenuous work or
exercise. Men usually begin sweating earlier and sweat more than

IN U
women in response to the same amount of exertion. This would imply

D
that men and women are not equal in heat tolerance.

IM
SKIN COLOR ADAPTATION
A B
•

melanin.
H
Skin color is due primarily to the presence of a pigment called

• Both light and dark-complexioned people have this pigment. However,

two forms are produced, pheomelanin, red to yellow in color, and
eumelanin, which is dark brown to black.
• People with light complexioned skin mostly produce pheomelanin,
while those with dark colored skin mostly produce eumelanin.
• In addition, individuals differ in the number and size of melanin
particles.

INDU
In lighter skin, color is also affected by red cells in blood flowing
B
•

HIM
close to the skin.
A
To a lesser extent, the color is affected by the presence of fat
under the skin and carotene , a reddish-orange pigment in the
skin.
• Hair color is also due to the presence of melanin.
• Melanin is normally located in the epidermis, or outer skin layer. It is
produced at the base of the epidermis by specialized cells called
melanocytes.
• These cells have photosensitive receptors, that detect ultraviolet

IN U
radiation from the sun and other sources. In response, they produce

D
melanin within a few hours of exposure.
•

M A B
Nature has selected for people with darker skin in tropical latitudes,
I
H
especially in non-forested regions. Melanin acts as a protective
biological shield against ultraviolet radiation. By doing this, it helps to
prevent sunburn damage that could result in DNA changes and,
subsequently, several kinds of malignant skin cancers. Melanoma
in particular is a serious threat to life.
• Some Northwest Europeans have substantially lost the ability to tan as
a result of relaxed natural selection. Their skin burns and peels rather
than tans. This is due to the fact that they produce a defective form of a
skin protein (melanocortin-1 receptor) which is necessary for the
production of melanin. They are at a distinct disadvantage in tropical

U
and subtropical environments. Not only do they suffer the discomfort of

IND
readily burning, but they are at a much higher risk for skin cancer. The

B
A
same is true of albinos.
•

HIM
Too much ultraviolet radiation penetrating the skin may cause the
breakdown of folic acid in the body, which can cause anemia. Pregnant
women who are deficient in folic acid are at a higher risk of having
miscarriages and babies with neural tube defects. Because folic acid is
needed for DNA replication in dividing cells, its absence can have an
effect on many body processes, including the production of sperm
cells.
• It would be harmful if melanin acted as a complete shield. A certain
amount of shortwave ultraviolet radiation (UVB) must penetrate the
outer skin layer in order for the body to produce vitamin
D. Approximately 90% of this vitamin in people normally is
synthesized in their skin and the kidneys with the help of ultraviolet

DU
radiation. The remaining 10% comes from foods such as fatty fish

IN
B
and egg yolks.
•

IM A
Vitamin D3, is needed for the intestines to absorb calcium and

H
phosphorus from food for bone growth and repair.
• Calcium is also necessary in adults to maintain normal heart action,
blood clotting, and a stable nervous system.
• New evidence suggests that vitamin D may help prevent a wide range
of cancers, including those of the colon and breasts.
• Vitamin D plays an additional important role in promoting the
production of cathelicidin, which helps to defend our bodies against
fungal, bacterial, and viral infections, including the common flu.
• People who live in far northern latitudes have fair skin complexion. The

DU
Inuit people of the American Subarctic are an exception. They have

IN
B
moderately heavy skin pigmentation despite the far northern latitude at

HIM A
which they live. While this is a disadvantage for vitamin D
production, they apparently made up for it by eating fish and sea
mammal blubber that are high in vitamin D. In addition, the Inuit
have been in the far north for only about 5,000 years. This may not
have been enough time for significantly lower melanin production to
have been selected for by nature.
• In the United States and other developed nations, milk is now
usually fortified with vitamins D and A in order to prevent
developmental problems such as those described above.
•

IN U
New research by Nina Jablonski and George Chaplin has led to
D
B
the discovery that women generally produce 3-4% less melanin

IM A
in their skin than do men in all populations of the world. They

H
suggest that this is probably due to the fact that women have
far higher calcium requirements during their reproductive
years.
 SKIN COLOR DISTRIBUTION AROUND THE WORLD
• Such a non-random distribution pattern of human skin color was
predicted by Constantin Wilhelm Lambert Gloger, a 19th

INDU
century German zoologist. In 1833, he observed that heavily

B
pigmented animals are to be found mostly in hot climates where

IM A
there is intense sunshine. Conversely, those in cold climates closer

H
to the poles commonly have light pigmentation.
• Presumably, the relative intensity of solar radiation is largely
responsible for this distribution pattern.
9.8. EPIDEMIOLOGICAL
IN
ANTHROPOLOGYDU
IM A B
--HIMABINDU
H
9.8. EPIDEMIOLOGICAL ANTHROPOLOGY
EPIDEMIOLOGY: James a. Trostle defined Epidemiology
as “the study of the distribution and determinants of disease”,
and the reasons behind the distributions like biological,
social, and cultural.
EPIDEMIOLOGICAL ANTHROPOLOGY elucidates
etiological (Causing or contributing to a disease) factors
involved in a disease incidence; and emphasis on population
variation in incidence and occurrence.
DISTRIBUTION / POPULATION VARIATION:
SEX:
• Some diseases occur only in males E.g. Y linked disorders,
Prostate cancer etc.

NDU
• Some diseases are more common in males E.g. X linked
I
A B
recessive disorders like Hemophilia, Heart diseases, Lung
IM
H
cancer and occupational diseases.
• Ovarian cancer, endometriosis and other diseases of the
female reproductive system occur only in women.
• Arthritis, Osteoporosis and other skeletal system related
problems are more common in females as.
AGE:
• Nutritional deficiency diseases are more common among
children.
• Degenerative diseases like Alzheimer’s and Parkinson’s are

D
more common in the old aged.
IN U
GEOGRAPHIC:
IM A B
H
• Sickle cell anemia and Malaria (Plasmodium falciparum) are
more prevalent in Sub Saharan Africa, Parts of India etc.
• Respiratory infections are more common in cold countries.
SOCIOECONOMIC GROUPS:
• Nutritional deficiency diseases (Due to lack of access to
good quality food) and Infectious diseases (Due to
unhygienic conditions and lack of education) are more

DU
common among the lower socioeconomic strata.
IN
IM A B
H
TYPES OF DISEASES BASED ON DISTRIBUTION:
• Endemic: a disease that exists permanently in a particular
region or population. Malaria is a constant worry in parts
of Africa.
• Epidemic: An outbreak of disease that attacks many peoples
at about the same time and may spread through one or
several communities.

U
• Pandemic: When an epidemic spreads throughout the world.

B IND
IM A
• DETERMINANTS (FACTOR THAT INFLUENCE /
CAUSE): H
The determinants of disease can be social and biological
SOCIAL DETERMINANTS:
 BIOLOGICAL DETERMINANTS:
Biological determinants are any substances that enter the
body from external environment (Pathogens, Poisonous
substances, Nutritional deficiency etc.) or existing in the
body (Genetic disorders, Hormonal disorders etc.)
Depending on these criteria, the diseases can be classified
as,
A. NUTRITIONAL DEFICIENCY DISEASES:
Protein deficiency leads to inferior growth, swelling of face,
discoloration of hair and diarrhea
Carbohydrate deficiency makes a person lean and thin. The
person remains tired and week.
Vitamin deficiency diseases:
Vitamin A deficiency – Night blind ness
Vitamin B1 deficiency - Beriberi (Weak muscles)
Vitamin C deficiency – Scurvy (Spongy and bleeding gums)
Vitamin D deficiency - Rickets ( Soft and brittle bones )
Mineral deficiency:
Iron deficiency - Anemia, Weakness
Iodine deficiency - Goiter: Swollen glands of the neck, Weight loss
Calcium deficiency: Decay of bones and teeth.

B. OCCUPATIONAL AND WORK-RELATED DISEASES

An “occupational disease” is any disease contracted primarily as
a result of an exposure to risk factors arising from work activity.
“Work-related diseases” have multiple causes, work
environment may play a role, together with other risk factors.
Asbestosis among asbestos miners.
Black lung among coal miners
Silicosis among miners and quarrying and tunnel
operators
Byssinosis among workers in the cotton textile industry.
Occupational asthma has many occupations at risk.
Carpal tunnel syndrome (Due to compression of median
nerve, the major nerve in the upper limb) among persons who
work in the poultry industry and information technology
Computer vision syndrome among persons using
information technology for hours
Lead poisoning affecting workers in many industries that
processed or employed lead or lead compounds.
C. GENETIC DISEASES: Discussed in 9.4, 9.3 & 9.2
chapters
D. AUTOIMMUNE DISORDERS:
E.g. Type I Diabetes Mellitus: Immune system attacks and
destroys Insulin producing cells in the pancreas leading to high
blood sugar levels.
Rheumatoid Arthritis: Immune system attacks the synovium,
inner lining of the joints leading to inflammation and pain in
the joints.
E. HORMONAL:
Diabetes mellitus, Hyperthyroidism, Hypothyroidism,
Polycystic ovarian syndrome due to imbalance of reproductive
hormones like more androgens in women.
II. INFECTIOUS / COMMUNICABLE DISEASES:
RECENT VIRAL INFECTIONS: (SARS):
v Pathogen: SARS-CoV
v Country of origin: China
v Case fatality rate: 9.6%
v Mode of transmission: Droplets produced by coughing, sneezing,
talking, or breathing
v Mean incubation period: 5 days
v Key symptoms: A cough (dry at first), a fever, and diarrhea in the
first or second week of illness, or both
v At risk groups: People with underlying medical conditions
v Treatment: No specific treatment
v Vaccine: No vaccine
Middle East Respiratory syndrome (MERS):
Pathogen: MERS-CoV
Country of origin: Saudi Arabia
Case fatality rate: 34.3%
Mode of transmission: Droplets from person to person,
unclear from camels to humans
Key symptoms: A fever, a cough, shortness of breath
At risk groups: Men above the age of 60, having diabetes,
high blood pressure, and kidney failure
Treatment: No specific treatment
Vaccine: No vaccine
COVID-19 :
Pathogen: SARS-CoV-2
Country of origin: China
Case fatality rate: 1.38% to 3.4%
Mode of transmission: Droplets
Mean incubation period: 5 days
Key symptoms: A fever, a dry cough, shortness of breath
At risk groups: Adults aged 65 and over, and people of all
ages with underlying medical conditions
Treatment: Several candidate drugs are undergoing testing
Vaccine: No vaccine, several vaccines are in development
Zika virus
• Zika virus disease is caused by a virus transmitted primarily
by Aedesmosquitoes.
• People with Zika virus disease can have symptoms
including mild fever, skin rash, conjunctivitis, muscle and
joint pain, malaise or headache. These symptoms normally
last for 2-7 days.
• There is scientific consensus that Zika virus is a cause of
microcephaly and Guillain-Barré syndrome. Links to other
neurological complications are also being investigated.
Ebola virus disease
• Ebola virus disease (EVD), formerly known as Ebola
haemorrhagic fever, is a severe, often fatal illness in
humans.
• The virus is transmitted to people from wild animals and
spreads in the human population through human-to-human
transmission.
• The average EVD case fatality rate is around 50%. Case
fatality rates have varied from 25% to 90% in past
outbreaks.
• The first EVD outbreaks occurred in remote villages in
Central Africa, near tropical rainforests, but the most
recent outbreak in West Africa has involved major urban
as well as rural areas.
• Community engagement is key to successfully controlling
outbreaks. Good outbreak control relies on applying a
package of interventions, namely case management,
surveillance and contact tracing, a good laboratory service,
safe burials and social mobilisation.
• Early supportive care with rehydration, symptomatic
treatment improves survival. There is as yet no licensed
treatment proven to neutralise the virus but a range of blood,
immunological and drug therapies are under development.
• There are currently no licensed Ebola vaccines but 2 potential
candidates are undergoing evaluation.
Dengue and severe dengue
• Dengue is a mosquito-borne viral infection. Aedes
aegypti and, to a lesser extent, Ae. albopictus.
• The infection causes flu-like illness, and occasionally
develops into a potentially lethal complication called
severe dengue.
• The global incidence of dengue has grown dramatically in
recent decades. About half of the world's population is now
at risk.
• Dengue is found in tropical and sub-tropical climates
worldwide, mostly in urban and semi-urban areas.
• Severe dengue is a leading cause of serious illness and death
among children in some Asian and Latin American countries.
• There is no specific treatment for dengue/ severe dengue, but
early detection and access to proper medical care lowers
fatality rates below 1%.
• Dengue prevention and control depends on effective vector
control measures.
• A dengue vaccine has been licensed by several National
Regulatory Authorities for use in people 9-45 years of age
living in endemic settings.
PRION INDUCED DISEASES: Prions are misfolded
proteins with ability to transmit their misfolded shape on to
normal variants of the same protein.
Alpers syndrome: a progressive degenerative disease of the
central nervous system.
Bovine spongiform encephalopathy: a fatal,
neurodegenerative disease of cattle that is transmitted to
human beings who eat infected carcasses.
Kuru: characterized by headaches, joint pains and shaking of
the limbs. Affects the brain and is fatal.
TOXIN-MEDIATED DISEASE
Diphtheria, Corynebacterium diphtheriae releases a toxin
which inhibits protein synthesis and damages the respiratory
system, heart and nervous system.
Cholera, Vibrio cholerae, releases a toxin leading to massive
chloride and water secretion in the small intestine.
Whooping cough (Bordetella pertussis).
Tetanus (Clostridium tetani)
CASE STUDIES:
1. ASHKENAZI JEWISH GENETIC DISEASES are a
group of rare disorders that occur more often in people of
Eastern European (Ashkenazi) Jewish heritage than in
the general population (Due to inbreeding among them).
Even though most of these diseases are severe and can
cause early death, some can be treated to reduce
symptoms and prolong life. Some of these diseases can
be diagnosed during pregnancy through chorionic villus
sampling (CVS) or amniocentesis. This testing is done
usually if one or both parents are carriers of a genetic
disease.
Diseases in this group include:
• Bloom syndrome. Babies with this disease are born small and
remain shorter than normal as they grow. Their skin may look
red, and they have more lung and ear infections than children
normally have.
• Cystic fibrosis. This disease causes very thick mucus in
the lungs and problems with digesting food.
2. PSEUDOCHOLINESTERASE DEFICIENCY is an
inherited blood plasma enzyme abnormality in which the body's
production of butyryl cholinesterase (pseudocholinesterase) is
impaired. People who have this abnormality may be fatally
allergic to certain anesthetic drugs, including the muscle
relaxants succinylcholine and mivacurium as well as
other ester local anesthetics.
Arya Vaisya community of India is the most affected
community than any other with homozygous mutation
incidence rate of 2-4%. This higher incidence of this
condition among them can be ascribed to inbreeding among
them.
EPIDEMIOLOGICAL TRANSITION:
"Epidemiological transition" accounts for the
replacement of infectious diseases by chronic diseases
over time due to expanded public health and sanitation. This
theory was originally posited by Abdel Omran in 1971.
Omran divided the epidemiological transition of
mortality into three phases, in the last of which chronic
diseases replace infection as the primary cause of
death. These phases are:
1.The Age of Pestilence and Famine: Where mortality
is high and fluctuating, precluding sustained population
growth, with low and variable life expectancy,
vacillating between 20 and 40 years.
2.The Age of Receding Pandemics: Where mortality
progressively declines, with the rate of decline accelerating
as epidemic peaks decrease in frequency. Average life
expectancy increases steadily from about 30 to 50 years.
Population growth is sustained and begins to be
exponential.
3.The Age of Degenerative and Man-Made Diseases:
Mortality continues to decline and eventually approaches a
stability at a relatively low level.
• A fourth stage, The Age of delayed degenerative
diseases — was later added by Olshansky et al in 1983.
• Another stage added much later by Martens in 2002
was the Age of re-emerging infectious diseases.
• Some argue that infectious and parasitic diseases are
reemerging; others just see it as a setback
Reasons for this re-emergence:
1. Evolution- microbes may become immune to antibiotics
(Antibiotic resistance), Mutations can happen in the viruses
forming new viruses, etc.
2. Poverty- disease like TB are largely controlled in countries
like US but still causing many deaths in less-developed
countries
3. Travel-disease diffusion due to globalisation (ex. SARS &
COVID from China)
COVID-19 outbreak has exposed the risks of interaction
of infectious disease with already existing co-morbidities.
Underlying hypertension, respiratory system disease and
cardiovascular, Cancer may be a risk factor. Unhealthy
lifestyle encompassing smoking, alcoholism, lack of
exercise and malnutrition may also have been putting the
individuals who attract COVID-19.
• The epidemiological transition occurs as a country undergoes
the process of modernization from developing nation to
developed nation status.
• The developments of modern healthcare, and medicine like
antibiotics, drastically reduces infant mortality rates and
extends average life expectancy which, coupled with
subsequent declines in fertility rates, reflects a transition to
chronic and degenerative diseases which were more
important causes of death.
• In several European nations replacement rates have even
become negative due to decrease in fertility. Omran gives
three possible factors tending to encourage reduced
fertility rates:
1.Bio-physiologic factors, associated with reduced infant
mortality and the expectation of longer life in adults.
2.Socioeconomic factors, associated with childhood
survival and the economic perceptions of large family
size; and
3.Psychologic or emotional factors, where society as a
whole change its rationale and opinion on family size and
parental energies are redirected to qualitative aspects of
child-raising.
Models of transition
• Classical/Western model: (England, Wales, and Sweden)
Countries in Western Europe typically experienced a transition
that began in the late eighteenth century and lasted over 150
years to the post-World War II era. The lengthy transition
allowed fertility to decline at virtually the same rate that
mortality also declined. Germany might be considered another
example of this model.
• Accelerated model: (Japan) Japan experienced a rapid
transition as a result of a few decades of intensive war-driven
industrialization followed by postwar occupation. The
accelerated transition follows a pattern similar to the
Classical/Western Model except that it occurs within a much
shorter time span. China might be considered another
example of this model.
Contemporary/Delayed model: (Chile, Ceylon) Due to
slow economic development, Chile and Ceylon (Sri Lanka)
experienced delayed transitions that have lasted into the 21st
century. Medical and public health improvements have
reduced mortality, while the birth rate remains high.
Determinants of disease
• Ecobiological: Changing patterns of immunity, vectors (such as
the black rat partially responsible for spreading bubonic
plague in Europe), and the movement of pathogenic organisms,
Emergence of new pathogens like COVID These alter the
frequency of epidemic infectious diseases as well as chronic
infections and other illnesses that affect fertility and infant
mortality.
• Socioeconomic: political and cultural determinants,
including standards of living, health habits, hygiene and
nutrition.
• Medical/Public health: specific preventive and curative
measures used to combat disease, including improved public
sanitation, immunization. [
9.8 Epidemiological
Anthropology: Health and
disease. Infectious and non-
infectious diseases. Nutritional
deficiency related diseases.
1.Narrate evolution of disease and major causes of ill health
in human populations. (2018, 10M)
2.Describe the scope of Epidemiological Anthropology in the
study of infectious and non-infectious diseases. (2016,15M)
3.Discuss the role of anthropology in the understanding of
health and disease. What specific understanding is available
with respect to infectious and non-infectious diseases?
(2014,20M)
4.Epidemiological Anthropology. (2014,10M)
1.What is meant by epidemiological transition? Elaborate
upon its causes and consequences highlighting major
health problems of our adult population today. (2013,15M)
2.Epidemiological anthropology (2012,10 marks))
3.Briefly discuss the important causes for variations in the
occurrence of parasitic diseases in different populations.
(2012,20 Marks)
4.Social concept of disease (2010,15 Marks)