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Forum Anthro OPT 2022 Test 4
Forum Anthro OPT 2022 Test 4
Stage 1
high death rate – agrarian economy – poor diet, poor sanitation, absence of medical aid
high birth rate – illiteracy, absence of knowledge about family planning, early marriage due
to social beliefs
Stage 2
Lowering death rate – Increase in income level – improving diet and all round development
and improvement
As birth rate high and death rate low – population growth accelerated rapidly and growth
in average size of family
Stage 3
Economic development – changing the character of economy from an agrarian to partially
industrialised one
Urbanisation – increase in standard of living – tend to reduce size of family
Thus, death rate is low and birth rate is also low
Stage 4
Birth rate and death rate stabilised at low level
Growth rate – stationary at high level
Some fluctuations in birth rate – due to market economy
Thus, when economy shifts from 1st to 2nd stage – it leads to creating imbalance in economy
Death rate can be controlled easily
But, birth rate is hard to control – thus, requires longer time
Malthusian Theory (1766-1834) –
o Given by Thomas Robert Malthus in an “Essay on principle of population as it affects the
future happiness of mankind”
o Geometric progression (GP) of populations – because of passionate behaviour of male and
female sexes, human population shall double in one generation time of 25 to 30 years. Thus,
population shall increase by GP.
o Arithmetic progression (AP) of food production – because of law of diminished returns,
increase in food production in generation time may not double. It may increase by AP.
o Positive checks by nature – before people die of hunger, nature will keep a check on
population by miseries like bad food, famine etc.
b) Senescence
Stretchler in 1962 defined senescence as “the changes which occur during the post-reproductive
period and it results in decreased survival capacity on the part of individual organism”
Senescence is all those manifestations in structure and function of various organs of the body
which are of declining or deteriorating nature which take place during the later period of life.
Senescence is the process and causes increased force of mortality in the form of increased liability
to loss of vigour, with increasing chronological age, with the passage of time
Changes which appear at different chronological ages are –
o Greying of hair
o Loss of strength
o Reduction in sensory capabilities
o Poor homeostatic mechanisms
o Reduced resistance of body against diseases
o Cardiovascular irregularity
Characteristics
o Changes are always deleterious
o These deleterious changes are cumulative and death is the ultimate result
o Processes involved in senescence are common to all members of a species and are
inseparable consequences of getting older
c) Down’s Syndrome
[46 + 1] or trisomy 21
Also known as Mangolian Idiocacy
Due to presence of extra chromosome 21 – total 47
Frequency
o 1/800 – one of the commonest
o 1/350 – for woman conceiving beyond 35 years of age
o 1/25 – for woman conceiving beyond 45 years of age
Common phenotypic manifestations –
o Flat face, round head and typical epicanthic fold of the eye
o Short, broad hand
o Mental retardation
o Hypotonia – poor muscle tone
o Short stature
o Protruding furrowed tongue
o Mild to moderate developmental disabilities
o Typical dermatoglyphic pattern
Non – disjunctional down syndrome –
Failure of chromosomal separation occur at the stage of maternal gamete formation which leads to
egg with extra 21 chromosome
It is also caused by non-disjunction of chromosome 21 at the time of early cleavage division of
zygote
Normal ovum × Normal sperm
Normal zygote
Cleavage division
Dies multiplies
But, non-disjunction is more frequent during female gametic stage than the cleavage stage
Translocational down’s syndrome – part or whole of chromosome is attached with some non-
homologous chromosome
o Involves chromosome 21 + either 14 or 15
o Thus, 46 chromosomes with two normal 21 and 1 normal 14/15 + large chromosome due to
fusion of 14/15 and 21
d) Acclimatization
Acclimatization refers to an impermanent (temporary) physiological changes that people make
when they encounter a new environment
There is an absence of any genetic change
Individuals develop them during their lifetime rather than being born with it
It involves whole genetic system and not a single or few genes
For example –long term acclimatization - longer exposure to cold leads to increase in metabolic
rate of body which generates more internal heat.
Short term acclimatization – when we are chilled out we tend to shiver which leads to creation of
heat by making muscles work
Thus, this gradual adjustment to conditions is acclimatization.
Q.2) a) The rise in genetic diseases points to probable mutations in the present population. Discuss
in detail the types of mutations & their consequences.
Mutation can be defined as the abrupt change in the genotype of an organism that is not a result of
recombination and includes all types of heritable genetic change of an organism
The process by which mutation is introduced in a gene is termed as mutagenesis whereas a resulted
phenotype with mutation is called a mutant.
Mutation is the ultimate source of all genetic variation and provides the raw material for evolution
Types of Mutation: Mutation can be classified on the method of its detection, the main types are
o Morphological Mutation - It affects the outward appearance of an individual including
colour, shape size etc.
o Lethal Mutation - It involves genotypic changes leading to death of an individual and can
be easily studied for mutation frequencies
o Biochemical Mutation - These types of mutations are identified by a deficiency so that a
defect can be rectified by supply of that deficient nutrient in the mutant
o Resistant Mutation - This type of mutation is identified by their ability to grow in the
presence of a pathogen or antibiotic
o Conditional Mutation - This type of mutation allows the mutant phenotype to express
under permissive conditions.
o Spontaneous Mutation - The type of mutation that occurs without treatment of organism
with an exogenous mutagen and it is the ultimate source of natural genetic variation in
populations. Spontaneous mutation arises from a variety of sources including errors in
DNA replication, transposition of transposable genetic elements and spontaneous lesions
o Point Mutation - point mutation causes replace ment of single base nucleotide with
another base nucleotide in a genetic material.
o Induced Mutation - These type of mutation arise due to presence of an exogenous mutagen
and its reaction with the parent DNA, resulting in structural change that affects the base
pairing capability of the altered nucleotide.
Consequences –
Neutral effect –
o Effectively alter physical characteristics of genetic material which accumulates in the gene
pool
o Natural selection is not operative on such mutations hence it brings about large scale
changes in genetic material over long period of time
o It is considered as major force of evolution
Beneficial effect –
o Confer positive advantage and are immediately included in the gene pool
o It is such mutations that cause changes in the gene frequency without selection having
acted upon it
Harmful effect –
o Sickle cell anaemia has resistance against malaria but is harmful in malaria free
environment
Application in forensics –
o Individual Identification and Crime Detection - the primary responsibility of a forensic
anthropologist is to provide law enforcement with a biological profile of the deceased to
help narrow down the possible identity of the decedent. Forensic anthropologists apply
standard scientific techniques developed in physical anthropology to identify human
remains, and to assist in the detection of crime.
o Identification of Sex - The pelvis, thigh-bones and skull are particularly noted for their
sexual characteristics. The female pelvis, constructed to meet the needs of childbearing,
has several features which distinguish it from the male.
o Identification of Age - Age is determined by studying a number of skeletal features in
humans, principally the skull, teeth and centres of ossification.
o Reconstruction of Height - Using the Regression Formula for Estimating Living Stature
with standard errors obtained from the average of the Long Bone Length of both right and
left humeri, ulnae and radii, femurs, tibiae and fibulae, an estimate of the decedent height
could be assessed.
o Identification of Decedents - Forensic anthropologists frequently work in conjunction with
forensic pathologists, odontologists, and homicide investigators to identify a decedent,
discover evidence of trauma, and determine the post-mortem interval.
o DNA Profiling - all of the DNA sections are contained in every cell, any piece of a person’s
body, from a strand of hair to a skin follicle to a drop of blood, may be used to identify them
using DNA profiling. This is useful in the case of identifying a criminal, because even a drop
of blood or skin left at the crime scene may be enough to establish innocence or guilt, and
it is virtually impossible to remove all physical trace of one’s presence.
c) Discuss in brief the role played by “cytogenetics” in genetic studies & its applications.
The branch of human genetics under which we study chromosomes. It is developed in late 1950s and
thereafter tremendous development and research has been done in this field.
Role and application in human genetics
Determining relation between chromosomal abnormalities and diseases – various disorders
associated with both autosomal and sex chromosomes, such as Down’s syndrome, klinefelter’s
syndrome and Turner’s syndrome, have been studied by cytogenetic method. Cytogenetics has
enabled us to find out the approximate incidence and clinical features associated with these
syndromes. Thus, the diagnosis treatment and cure of these abnormalities have been made
possible.
Mapping genes to particular chromosomes – this has enabled us to map blood groups, banding
patterns etc. to specific chromosomes. For instance. Cytogenetic methods have been used to map
the Duffy blood group locus to chromosome 1 in humans.
The Philadephia chromosome was found in 1960 as a small chromosome in the white blood cells of
patients with chronic myeloid leukaemia. After 13 years, it was shown to be the result of a
translocation of chromosomes 9 and 22. Identification of the Philadelphia chromosome by
cytogenetics is diagnostic for chronic myeloid leukaemia.
Molecular cytogenetics is a useful tool for the diagnosis and treatment of various malignancies such
as brain tumours, haematological malignancies, etc.
The entire genome can be assessed for copy number changes using virtual karyotyping generated
from arrays made of thousands to millions of probes.
Cancer cytogenetics is molecular genetics dedicated to the study of the chromosomal behaviour –
number, an aberration for the oncogenic effect and the effect of treatments.
Q.3) a) How is “Recombinant DNA Technology” relevant in our day to day lives? Substantiate with
suitable examples.
Recombinant DNA technology involves introduction of desired gene into the DNA of another species.
It is based upon structural and functional similarities of DNA among all biological beings from viruses
to human being.
Advantages –
It does not require large scale investment
Formulatory phase for the establishment of this technology is also not time consuming thus it has
more access to masses
Relevance and examples –
This technique has been used for analysing gene structure and the diagnosis of genetic disorder of
both adults and foetus.
To understand molecular events in biological processes by DNA sequencing such as the sequence
of the proteinaceous product; isolation and analysis of gene promoters; sequences of gene control
and identification of mutations
To commercially manufacture pharmaceutically important compounds like vaccines against
hepatitis B, foot and mouth disease etc., vitamins, drugs against microbial pathogens and interferon
To manufacture products of industrial importance such as proteases for detergents and enzymes
used for making cheese.
To degrade pollutants through recombinant microorganisms. This is termed as bioremediation.
To identify, cut and remove genes responsible for genetic disorders and replace them with normal
genes. This is called gene therapy.
To clone specific genes of a genome with the help of rDNA technology
b) Gregor Mendel is called as the “father of genetics”. What are the Mendel’s laws of inheritance &
their relevance?
Gregor Johann Mendel is considered as the father of genetics. With the help of his two experiments
such as monohybrid cross and dihybrid cross using pea plant, he came out with certain law of
inheritance.
Law of dominance –
o Characters are controlled by discrete units called factors
o Factors occur in pairs
o In a dissimilar pair of factors one member of the pair dominates (dominant) the other
(recessive)
o It is used to explain the expression of only one of the parental characters in a monohybrid
cross in the F1 and expression of both in F2
Law of segregation –
o Whenever two factors are brought together in a hybrid and when the hybrid forms germ
cells, the two factors segregate into two separate gametes and each cell is pure with
respect to that character
Law of independent assortment –
o Whenever two or more pairs of contrasting characters are brought together in a hybrid,
the factors of different pairs segregate independently of one another
Relevance –
Pedigree analysis – pattern is dominant or recessive can be found out by pattern of its distribution
in the family
Medico-legal relevance – Mendelism can serve the judgement in the case of paternity dispute with
the help of law of dominance and law of segregation – with the help of ABO blood group system
Genetic counselling – hundreds of genetic diseases have been discovered that are inherited as
autosomal dominant, autosomal recessive or are sex linked – thus, can be predicted by finding out
whether parents are carrier
Hybrid varieties – large number of disease resistant, early maturing, high growth varieties of
cereals, fruits and vegetables have been produced using mendelian principles of inheritance
c) Certain communities in South India & the Muslim communities have a concept of “inbreeding”
when it comes to marriage. In this context, elaborate on the genetic effects of inbreeding.
It usually refers to mating of two closely related parents
Brother and sister mating and mating with the first cousin is very close to inbreeding which is
observed among certain south Indian and Muslim communities in India
It tends to eliminate hybrids from the population and replace them by pure breeds of homozygous
type
By process of segregation according to Mendel’s first law of segregation, proportion of homozygous
in population increases
If recessive gene is comparatively rare in the general population, inbreeding allows two such of
genes to come together and express themselves
Inbree-ding increases homozygosity but it does not alter the gene frequency
Inbreeding is hazardous only to the extent when undesirable recessive genes are present in the
original stock
If lethal gene in heterogeneous state, inbreeding leads to gene in one individual may lead to death
of individual
Gene frequency will change only when recessive homozygotes are eliminated from the population
prior to attempting reproductive age
It may result in a far higher phenotypic expression of deleterious recessive genes within a
population than would normally be expected
As a result, first-generation inbred individuals are more likely to show physical and health defects
Q.4) a) What do you understand by the “Human Genome Project”? Discuss its inception &
applications.
Human Genome refers to the total number of genes in a human cell or genes present in haploid set
of chromosomes
Human Genome Project is an international research effort with the aim of sequencing the entire
human DNA and also determine the location of all identified genes
It is co-ordinated by Us department of Energy and the National Institute of Health
It is initiated with the hope to develop new ways to diagnose, treat and someday prevent the
thousands of disorders that affect us
It led to generation of enormous amount of genetic information
Achievement –
The human genome project was one of the greatest accomplishments with far-reaching effects in
the endeavour for understanding human biology.
The project aimed at mapping of the human genome and annotating the function of individual
genes’ functions. The project revealed that there are 20,500 human genes along with their location.
The technology developed in the project has been used to sequence other organisms’ genomes.
The underrepresentation of human diversity in HGP led to the Human Genome Diversity Project
which recruited 52 populations from all over the world now a part of HGDP-CEPH panel.
HGDP data and samples have been used to delineate the influence of climatic, ecological factors
and cultural practices at the population level, for studying population structure and to reconstruct
population history.
The Geographic Project aimed at elucidating migratory history of modern humans after their origin
from and dispersal out of Africa by studying genetic patterns in mitochondrial DNA and Y
chromosomal DNA diversity.
The 1000Genomes Project undertook, for the first time, the sequencing of 95% of the complete
human genomes samples collected from populations with European, East Asian, South Asian, West
African and American ancestry
c) What do you understand by the “ABO” blood group system? Discuss the types of blood groups.
Discovered by Landsteiner in 1900
Three alleles IA, IB and IO determines the four types of blood group in this system
Presence of any of these two on the homologous chromosomes determines the type of blood group
IB IB or IB IO B B Anti A
IA IB Both AB No antibody
It is important in blood transfusion. For example person with blood group ‘A’ cannot receive blood
from person having antigen ‘B’ i.e. ‘B’ and ‘AB’ as they have antibody ‘B’ in their plasma
Inheritance of ABO blood group system depends upon homozygosity and heterozygosity of parent
a. Homozygous parents b. Heterozygous parents
IA IA × IB IB IA IO × IB IO - parents
IA IB IA IO IB IO - gametes
IA IB IA IB IA IO I B IO IO IO – F1
All AB children AB A B O
Distribution –
o O – 62% - America
o A – 22% - Europe and Eurasia, Australian tribe
o B – 16% - North India and central Asia
o This shows that ABO blood group system is affected by environment
SECTION - B
c) Mosaics/Inter-sex
Person is born with a reproductive or sexual anatomy that doesn’t fit the typical definition of male
or female
Due to presence of two or more population of cells with different genotype in one individual who
has developed from single fertilized egg
Cause
Due to non-disjunction of chromosomes usually X and Y during early embryogenesis
Anaphase lag and endoreplication are other causes
Gynandromorph/ Hermaphrodite
o mosaic of male cells and female cells
o both masculine and feminine characteristics
o if more male cells – testes will be dominant
o if more female cells – ovary will be dominant
o if equal – ovo-testes
o both male and female hormones are secreted in them
Pseudohermaphrodite
o Individuals who are partly male and partly female in genitalia and secondary sex
characteristics
o May be male pseudohermaphrodite – undescended testes, small penis, rudimentary vagina,
no scrotal sacs, presence of breasts and is sterile- they may be converted to female by
surgical method
o May be female pseudohermaphrodite – underdeveloped ovaries, infantile uterus and
vagina, rudimentary penis, little breast – some are converted to male by suitable surgery
and hormone therapy in early childhood
d) Genetic Counselling
Communication process that informs prospective parents about the nature of genetic disorders, about
the risk of their having genetically defective child and about the options available to them in dealing
with that risk.
It is an important aspect of applied human genetics
The duty of counsellors is to offer the necessary genetic information and also the information about
social, economic and psychological aspects related to the case
Importance –
Help the family in comprehending the medical facts including the diagnosis, probable course of
disorder and the available management
Appreciating the way heredity contributes to the disorder and the risk of recurrence in specified
relatives
Understand the alternatives for dealing with the risk of recurrence
Choosing a course of action which seems to them appropriate
To make the best possible adjustment
Process
Screening informing parents calculation of likelihood of disease suggesting ways to
control
Adolescence –
It extends from the onset of puberty till the time sexual maturation is completed
Age of both puberty and sexual maturation vary in different individual depending upon
environment and genetic factors
Bodily changes occur during adolescence which is different for boys and girls
Changes in reproductive system like appearance of sperm, growth in penis for boys and menarche,
appearance of breast bud etc. for girls
Physiological changes are much more marked in boys than girls and they become much more
stronger by virtue of having larger muscles
Senescence –
Senescence is all those manifestations in structure and function of various organs of the body
which are of declining or deteriorating nature which take place during the later period of life
Changes are deleterious
Death is the ultimate result
Q.7) a) With the advent of supplements & anti-oxidants, ageing & reverse-ageing has been a lot in
news lately. What are the different theories of ageing?
Biological theories of ageing –
Wear and tear theory – tissue of the body become worn out due to spontaneous and constant usage
and are not replenished fast
Death gene theory – ageing is predetermined property of genetic material and it occurs due to
activation of harmful genes at particular time in later life or due to altered state of functional gene
Free radical theory – free radicals attack multiple double bond system like lipids and also damages
lysosomes leading to killing of cells. These free radicals are accumulated in the cell during oxidation
metabolism and also by radiation
Error theories – error in protein synthesis due to certain functional catalytically. Error at DNA level
which results in decreased efficiency of DNA repair mechanism.
Collagen cross-linkage theory – cross linkage of collagen increases with age which leads to
reduction in diffusion of nutrients and waste products across basement membrane
Social theories of ageing–
Disengagement theory – By cumming and Henry and says that ageing is an inevitable, mutual
withdrawal or disengagement which leads to decreased interaction between the ageing person and
others in the social system he belongs to
Activity theory – as a response to disengagement theory and says that successful ageing occurs
when elderly stay active and maintain social interactions
Continuity theory – it says that elder adults will try to maintain the continuity of their lifestyle by
adapting strategies connected to their past experiences
No single theory is sufficient to explain ageing and thus it has become highly debatable topic in
anthropology.
c) What are the factors which affect the Infant Mortality Rate in India?
Infant Mortality Rate (IMR): The infant mortality rate is the number of deaths of infants under one year
of age per 1000 live births in a given year.
Endogenous/Biological factors:
Among the biological factors affecting foetal and neo-natal infant mortality rates, the important
ones are the age of the mother, the birth order, the period of spacing between births, prematurity
birth, weight at birth and the fact of multiple births.
Based on in-depth studies done on the age of the mother, the parity of the mother or the order of
pregnancy and or of birth it has been generally observed that foetal and neo-natal mortality rates
are higher at the younger ages of the mother (that is, below the age of 19), at first parity and for the
first birth order.
It is now an established fact the causes of foetal and neo-natal deaths arise mainly out of genetic
factors, and may be traced back to the intrauterine life of the foetus and to the damage occurring
during the process of birth.
Exogenous Causes:
Social, cultural, economic and environmental factors are also found to affect infant mortality,
especially during the post-neonatal period.
However, post-neo-natal deaths are mainly due to various epidemics caused by communicable
diseases, both of the digestive system such as diarrhoea and enteritis, and of the respiratory system
such as bronchitis and pneumonia as well as by faulty feeding patterns and poor hygiene.
The important environmental factors include crowding and congestion, insanitary surroundings,
lack of proper sunshine and fresh air, etc.
Changing patterns of lifestyle impacting on culture producing illegitimate births and consequent
effects leading to infant mortality is also contributing to a high infant mortality rate.
Q.8) a) Differentiate between the terms adaptation, adaptability & acclimatization in human beings
with examples
Individuals in human population show variations which is largely the product of variations in genes.
But, physical and cultural environment also produce varying frequencies of physical traits. Thus,
ecological anthropology deals with these factors which are referred to as adaptation and
acclimatization.
Adaptation –
genetic changes that allow an organism to survive and reproduce in a specific environment
environment favours the reproductive success of some traits rather than others
for example variation in skin colour, body build can explain the role of natural selection in different
environment
it results in permanent changes in the structure and physiology of an organism
For example – eskimos have small limbs to prevent loss of heat and have normal trunk length so
that maximum metabolic energy is generated. Also have cold genes to keep their limbs warm and
save them from frost bites.
Acclimatization –
It refers to an impermanent (temporary) physiological changes that people make when they
encounter a new environment
There is an absence of any genetic change
Individuals develop them during their lifetime rather than being born with it
It involves whole genetic system and not a single or few genes
For example –long term acclimatization - longer exposure to cold leads to increase in metabolic
rate of body which generates more internal heat.
Adaptability –
It refers to the human ability to mould and modify the ecological habitat to make it more suitable
for survival in difficult conditions
Ecological habitat is more difficult to change and thus human adaptability also includes the human
ability to mould and modify its own behaviour for better survival in different conditions
It includes both biological and cultural component
b) Discuss various factors which affect growth & development in human beings
Genetic
Genes control or affect growth and development right from the stage of eggs
Some genes control growth and development in association with environment – for ex. Height, age
of menarche
Tall parents have tall children also size of head is more closely related to parents than shape of
hand and feet
Twin studies of skeletal maturity shows a close correspondence at all ages in identical twins
Growth potential of different racial group differ for ex- Japanese children reach their growth peak
and mature earlier than negroes and white and is least affected by environment factor
Environmental
Environment provides opportunities for development of some innate potentialities of heredity
Twin studies show the effect of environment on growth
When section of homogeneous population migrates to another land and continue to maintain their
group identity, difference between this section and their counterparts in the original homeland can
be seen
Due to emotional stress -> growth hormone secretion is inhibited and thus children do not grow
and develop at an optimal rate
Biochemical
Human growth and development is an interplay of hormones secreted by various endocrine glands
Any fluctuation in their normal level in blood reflects serious imbalance in growth and development
Maximum growth is attained when both thyroxin and growth hormone have their optimum level
Growth hormone is capable of causing both bone and muscle growth
During pre-natal stage – chorionic gonadotropin and testosterone play an important role
During post-natal stage – growth hormone plays an important role
During adolescence stage – growth promoting cortical hormones, testosterone, growth hormone
and sexual maturity through gonadal hormones etc. play an important role
c) Discuss in detail the “genetic markers” in human beings which help in the genetic analysis in men.
It is a gene or DNA sequence with known location on chromosome that can be used to identify an
individual or species. Human blood is an important source of genetic markers and it has advantage as
it is easily obtained and can be easily transported.