Unit 12 Paper 1

SEROGENETICS AND CYTOGENETICS OF
REPRODUCTIVE BIOLOGY
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Cytogenetics: Cytogenetics is a branch of genetics that is
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concerned with the study of the structure and function of the
B
cell. cytogenetics of male and female reproductive
A
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physiology means study of the structure and functions of the
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cells related to reproductive activity.
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B I
IM A
H
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Serogenetics: Serogenetics is branch of genetics that is

concerned with study of serological proteins. Serogenetics
of male and female reproductive physiology means the
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study of serum hormones which regulate the formation of
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germ cells. (gonadotropins-FSH, LH,HCG and sex
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hormones - Testosterone, estrogen and progesterone)
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1. Testosterone: Testosterone is the primary androgen(sex

hormone).
• This steroid is manufactured by the interstitial (Leydig) cells of
the testes.
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• Secretion of testosterone increases sharply at puberty and is
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responsible for the development of the so-called secondary
A
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sexual characteristics (e.g., beard) of men. Testosterone
essential for the production of sperm.
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• Production of testosterone is controlled by the release

of luteinizing hormone (LH) from the anterior lobe of the
pituitary gland, which is in turn controlled by the release of
GnRH from the hypothalamus.
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B I
A
Hypo thalamus → GnRH → Pituitary → LH → Testes
→ Testosterone
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Males need estrogen, too! normal bone development and

male fertility also need estrogen
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2.Estrogens: The ovaries of sexually-mature females
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secrete a mixture of estrogens. The three major naturally
occurring forms
A
of estrogen
B in females
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are estrone (E1), estradiol (E2), and estriol rr(E3).
type of estrogen called estetrol xxaammss. o
. o g
g Another
4ee is produced only
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during pregnancy. of which estradiol is the most abundant
(and most potent).
•Estrogens are steroids. They participate in the monthly

preparation of the body for a possible pregnancy,
participate in pregnancy if it occurs
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•secondary sexual characters
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A
Estrogens also have non-reproductive effects.
•
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They antagonize the effects of the parathyroid
minimizing the loss of calcium xxaammss. o
. orrgg hormone,
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helping to keep bones strong.
•They promote blood clotting.
3.Progesterone
Progesterone is also a steroid. It has many effects in the
body, some having nothing to do with sex and
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reproduction. Here we shall focus on the role of
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progesterone in the menstrual cycle and pregnancy
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Regulation of Estrogen and Progesterone

The synthesis and secretion of estrogens is stimulated
by follicle-stimulating hormone (FSH), which is, in turn,
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controlled by the hypothalamic gonadotropin releasing
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hormone (GnRH).
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M A
Hypothalamus → GnRH → Pituitary → FSH →
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Ovarian follicle → Estrogens dff44eexxaam
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High levels of estrogens suppress the release of GnRH
providing a negative-feedback control of hormone levels.
Progesterone production is stimulated by luteinizing

hormone (LH), which is also stimulated by GnRH.
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Hypothalamus → GnRH→ Pituitary→ LH → Corpus
luteum → Progesterone
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A B
Elevated levels of progesterone control themselves by the
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same negative feedback loopexxaam
(and testosterone). PPddf44e
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s.
used o
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4.HCG (Human chorionic gonadotropic hormone): a

protein hormone, begins to be produced in large amounts in
early pregnancy. It is biologically similar to luteinizing
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hormone (LH). HCG's primary role is to keep the corpus
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luteum functioning, so that the corpus luteum continues to
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produce estrogen and progesterone. Also sees that the
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endometrium is prepared to receive4ethe
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implanting embryo.
SPORTS ANTHROPOLOGY
• Study of body requirements for various sports is called

Kinanthropology or sports anthropology.
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• It deals with Anthropometry.
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IM A . o orrgg
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• Phenotypic variations like size, physique, body

composition, Metabolic power, strength, speed,
Cardiovascular capacity are the factors that are considered
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for the selection of sportsmen in to different sports.
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B I
• Bothe genetic and nongenetic factors like nutrition,
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motivation, training and nature also plays a key role in the
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selection for sports.
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• Making use of different techniques of Kinanthropology,

several anthropologists classified human beings in to
different somatotypes (Body forms).
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Classification of somatotypes based on height-weight

index by Morehouse and Rash:
• Short – Heavy – Weight lifting
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• Short – Medium – Gymnastics
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• Short – light – Skating
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• Medium – Heavy – Throwing f44eexxaam
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• Medium – medium – Long distance swimming and long

distance running.
• Medium – light – Hockey, Football.
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• Tall – Heavy – Wrestling
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IM A
• Tall – medium – Boxing
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• Tall – light – Jumping
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William Herbert Sheldon classified the human somatotypes

into 3 types, Endomorph (Tendency to gain fat),
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Mesomorph (Muscular, athletic), Ectomorph (tall and
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thin), based on photoscopic / anthroposcopic observations.
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IM A . o orrgg
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A somatotype number of three digits is determined for an

individual classified by the system, with the first digit
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referring to endomorphy, the second to mesomorphy, and
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the third to ectomorphy; each digit is on a scale of 1 to 7.
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B
Hence, the extreme endomorph has the somatotype 711,
A
117.
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the extreme mesomorph 171, and the extreme ectomorph
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The classification numbers are negatively correlated, so that

a high number in one class precludes high numbers in the
others; in practice, extreme types (711, 171, 117) are rare or
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non-existent, and the person of normal build has a
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somatotype approaching 444, evenly balanced between
extremes.
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People with different body shapes, tend to be good at different

sports. Most toplevel sportpersons will have a body shape which
leans towards the mesomorph end of the scale as most sports
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require a good deal of strength. They will then have either
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ectomorph or endomorph features, depending on how lean they
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are and how weight affects their sport. For example, a
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weightlifter or wrestler will be more
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towards .
scale, and a long jumper or soccer player would be more
the endomorph
ectomorph.
The image below gives some examples of ideal somatotypes

for different sports.
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Physical traits suitable for different sports:
Skating: Skaters need balancing. Therefore short and light

people are suitable for skating.
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B I
IM A . o orrgg
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Weight lifting: For weight lifting , limb height should be less

than the trunk height. Tall individuals are at disadvantage as
they have to lift the weight to a greater distance against the
gravitational force,
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B I
IM A
Football: characters like Femur length, Tibial
. o orrgg length, Fibular
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length, Patellar length, Metatarsal
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lengthxaammss .
and the arche
Hockey, Tennis, Badminton, Shuttle etc.: characters like

Humeral length, Radioulnar length, Size of metacarpals and
phalanges are the crucial characters.
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B I
Cold water swimming: Cold water swimmers should have a
M A
uniform thick layer of subcutaneous fat.
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Long distance running or swimming: Long distance

runners or swimmers should have high anaerobic capacity,
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as the anaerobic respiration provides a rapid supply of
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energy when compared to the aerobic respiration.
A B
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During severe exercise, in the muscle, partial anaerobic

conditions will be created due to the excess respiratory and
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energy demands. This causes Anaerobic respiration in the
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muscles. Anerobic respiration produces 2 ATP per cycle while
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the Aerobic respiration gives 38 ATP, Thought the Aerobic
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respiration appears to give more ATP x aa(Energy),
mmss . Anaerobic
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PP compared to the aerobic
respiration is 100 times faster when
respiration.
Therefore, by the time aerobic respiration gives 38ATP (1

cycle), Anaerobic respiration gives 200 ATP (100 cycles).
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Therefore, long distance runners or swimmers should have
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more anaerobic capacity so as not to have an energy deficit
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while running or swimming. B
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The general physical features required
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Respiratory Volumes and Capacities
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sports men:
The sports men in general are supposed to have high

respiratory capacities in terms of the following aspects
• Vital capacity: The capacity of the lungs to expire

maximum volume of air after a deep inspiration
• Residual air: The volume of air that remains in the lungs
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after the most forceful expiration. Residual air mostly
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occurs in the alveoli.
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• Total lung capacity: Sum of vital capacity and residual
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volume.
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• Dead air space: a part of the inspired air left in the trachea
and bronchial tree where no gaseous exchange occurs.
• Minute volume: The amount of air moved in and out of
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lungs during on minute It is equal to the tidal volume
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multiplied by no. of breaths per minute.
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• Tidal air: Air that normally goes in and out during
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breathing.
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The genetic prerequisites of the sports men:

• American journal of Human genetics reported that
specific genes are required for the long distance and short
distance runners.
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• A particular gene called α –Actin – 3 synthesises a protein
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that combines with Glucose which is released
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muscles and helps in quickPPdmuscle
required for short distance runners.
s
s .
fdf44eexxaammcontraction that is
α –Actin – 2 gene:
Synthesises a protein that maintains low levels of lactic
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acid in the muscles which is required for the high
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anaerobic capacity for the long distance runners and
B
swimmers.
IM A . o orrgg
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APPLIED HUMAN GENETICS

9.1 & 12. RECOMBINANT DNA TECHNOLOGY IN DISEASE AND
MEDICINE / GENETIC ENGINEERING
A. GENE CLONING:
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1. Cut the gene of interest with a suitable restriction endo nuclease enzyme.
B I
A
Restriction endonucleases are the Enzymes that can cut the DNA at a specific
M
interior position.
H
Eco RI G|AATTC ,
Bam HI G|GATCC,
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Alu I AG|CT ,
Hae III GG|CC
ACCTGGG|CCTGGCTAATGG|CCGTTTAT
2. Cut a suitable vector with the same restriction endonuclease.

Vectors: Vectrors are gene vehicles that can carry the genes from human
cell to bacterial cell.
Types of vectors:
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• Plasmids: Small, extra chromosomal, circular DNAs that have their
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own origins of replication and are capable of autonomous replication
B
A
within bacterial cells.
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kb can be carried.IM
• Phagemids, Modified bacteriophage lambda genome : insert of 12-20
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• Cosmids: with combined features from plasmids and bacteriophage
lambda and can be used for inserts up to 46 kb. These are lambda-phage
genomes contain cos sites at their ends (cohesive ends).
• Bacterial artificial chromosomes: can carry up to 300 kb of inserted

DNA;
• Yeast artificial chromosomes: which have all essential elements of
eukaryotic chromosomes, and can carry up to 500 kb.
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bacteria.
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3. Transfer the recombinant DNA (Vector with Human gene) in to a
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4. Let the bacteria multiply and form a clone of bacteria, along with the
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bacteria the gene also multiplies (Gene cloning) and the bacteria also
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produce the protein from the gene.
5. The protein can be harvested and used as a medicine to cure a particular
genetic disease.
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Proteins that can be produced using Gene cloning:

• Insulin for the treatment of Diabetes.
• Blood clotting factors for the treatment of Haemophilia.
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• Growth hormone for the treatment of Dwarfism.
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• Interferons ( Anti viral proteins ) for the treatment of
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frequent viral infections. s.o.orrgg
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Recombinant vaccines: Vaccines made using recombinant DNA

technology ( Gene cloning). E.g., Vaccine against Human papilloma
virus that cause cervical cancer.
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B. GENE THERAPY: Treating a genetic disease by correcting the
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mutation in particular gene. Gene editing tool like CRISPR-CAs9 can be
used.
A B
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CRISPR – Cas9 mechanism: CRISPR is a guider RNA designed
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specifically to be complimentary the mutated gene that is to be removed..
e
Cas-9 is a nuclease enzyme tagged to the CRISPR so that it can remove
the mutated gene & a correct copy of the mutated gene can be added in
the gap
TTAGG / CACGT / ACGAT

AATCT / GTGCA / TGCTA Double stranded DNA
UUAGA
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CRISPR - Cas - 9
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Mutated Gene P
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Gene therapy is of two types.

1.Somatic gene therapy: Treating a genetic disease by
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correcting the mutation in somatic cells of the patient.
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Advantage: There are no legal implications.
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Drawback: Practically very difficult due to large number of
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somatic cells to be edited.
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2.Embryonic gene therapy/ Germ line gene therapy:

Treating a genetic disease by correcting the mutation in
embryonic cells before birth. Gene editing tool like
CRISPR-CAs9 can be used.
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Advantage: Practically easier when compared to somatic
gene therapy due to lesser number of cells to be edited.
IM A
Drawback: Legally not permitted as this.orrcould
o g
g pave the
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way for "designer babies." PPddff44eexxaammss.
DNA FINGER PRINTING / DNA TESTING / HUMAN

DNA PROFILING (UNIT 9.4.D) (PATERNITY
DIAGNOSIS – UNIT 12):
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1. PCR (POLYMERASE CHAIN REACTION): Invitro
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I A
DNA replication for the pretest DNA amplification.
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Enzyme used: DNA polymerase . o orrgg
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Equipment used: Thermal cycler PPddf4
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2. Restriction fragment length polymorphism (RFLP):

Restriction endonuclease: Enzymes that can cut the DNA at a specific interior
position.
Restriction fragments: Fragments of DNA obtained by cutting with restriction
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endonucleases.
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As in this technique we analyse the length polymorphism in the restriction
B
fragments between the people, the technique is known as RFLP.
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• It is also known as VNTR: Variable Number of Tandem Repeats & as
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STR: Short Tandem Repeats.
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3. Gel electrophoresis: A technique used to separate the DNA fragments
according to their size. DNA fragments are loaded at one end of a gel and
electric current is applied to pull them through the gel. DNA fragments are
negatively charged and moves toward positive electrode. Smaller fragments
move faster, and larger fragments move slowly.
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IM A . o orrgg
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DNA TECHNOLOGY (USE AND APPLICATION) REGULATION

BILL 2019:
• Introduced in Loksabha.
• It seeks to establish a national data bank & regional databanks.
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• It envisages that every databank will maintain indices like
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Ø Crime scene index
Ø Suspects’ or under trials’ index
A B
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Ø Offenders’ index
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Ø Missing persons’ index.
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Ø Unknown deceased persons’ index.
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• It also provides procedure for the removal of DNA profiles from these
indices.
• It also establishes a DNA regulatory board. Every laboratory that

analyses DNA samples to establish the identity of an individual has to be
accredited b y the board.
• The bill also proposes a written consent by the individuals be obtained
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before collection of their DNA samples, however consent is not required
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for offences with punishment of more than 7 years in jail or death.
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• It states that the DNA samples, DNA profiles and records, will be only
A
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used for identification of the person and not for any other purpose.
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• It also empowers government to impose jail term of up to 3 years and
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fine of up to Rs. 1 lakh on those who leak information stored in such
facilities. It prescribes similar punishment for those who seek
information on DNA profiles illegally.
• Bill will ensure that DNA test results are reliable and data remain
protected from misuse or abuse in terms of the privacy rights of our
citizens.
• The DNA testing is allowed for facilitating identification of a person in
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Ø Criminal offences under IPC
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Ø Civil cases like paternal dispute, ART, Transplantation of human organs,
B
Immigration, emigration, identifying the unidentified human remains,
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abandoned children etc.
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Criticism: DNA profiling bill is a violation of right to privacy which is
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recognized as a fundamental right.
d xxaammss .
Note: Also write about Genome study (9.4), Genetic screening, prenatal
diagnosis (9.4) etc. Any genetic technique having human application
comes under applied human genetics.
12. FORENSIC ANTHROPOLOGY,

METHODS AND PRINCIPLES OF PERSONAL
IDENTIFICATION AND RECONSTRUCTION
Forensic science is defined as the application of scientific methods to the law.
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The term "forensic anthropology” can be used to describe any situation in
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which the techniques of any aspect of anthropology are applied to the law.
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The ultimate target of forensic anthropology is personal identification. To
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achieve this, we can procede through different steps like,
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• Age determination, Race determination
• Gender determination, Stature determination
• Personal identification by certain advanvecd techniques like
superimposition, and facial reconstruction.
FORENSIC AGE DETERMINATION:
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AGE DETERMINATION BASED ON TEETH

ERUPTION TIMETABLE
Primary teeth eruption chart
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The following chart shows when primary teeth (also called
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baby teeth or deciduous teeth or milk teeth) erupt and shed.
IM A
It’s important to note that eruption timesrgcan
. o o r g vary from
child to child.
H PPddf4
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Upper Primary Teeth Development Chart
Upper Teeth When tooth emerges When tooth falls out

Central incisor 8 to 12 months
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Lateral incisor 9 to 13 months 7 to 8 years
A
Canine (cuspid) 16 to 22 months B 10 to 12 years
First molar
Second molar HIM
13 to 19 months am
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25 to 33 months
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9g to 11 years
10 to 12 years
Lower Primary Teeth Development Chart

Lower Teeth When tooth When tooth falls
emerges out
Second molar 23 to 31 months 10 to 12 years
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First molar 14 to 18 months
B I 9 to 11 years
Canine (cuspid)
IM A
17 to 23 months
. o orrgg 9 to 12 years
Lateral incisor H P
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10 to 16 months
mmss .
7 to 8 years
Central incisor 6 to 10 months 6 to 7 years
PERMANENT TEETH ERUPTION CHART

Upper Permanent Teeth Development Chart
Upper Teeth When tooth emerges
Central incisor
U
7 to 8 years
ND
I
Lateral incisor 8 to 9 years
Canine (cuspid)
A B
11 to 12 years
HIM
First premolar (first bicuspid)
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Second premolar (second bicuspid)
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10 to 11 years
o
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10 to 12 years
First molar 6 to 7 years
Second molar 12 to 13 years
Third molar (wisdom teeth) 17 to 21 years
Lower Permanent Teeth Development Chart

Lower Teeth When tooth emerges
Third molar (wisdom tooth) 17 to 21 years
Second molar
U
11 to 13 years
ND
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First molar 6 to 7 years
A
Second premolar (second bicuspid)
B
11 to 12 years
HIM
First premolar (first bicuspid)
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f xxaammss.10 to 12 years orrgg
. o
Canine (cuspid) 9 to 10 years
Lateral incisor 7 to 8 years
Central incisor 6 to 7 years
E.g. In a skull if upper first molar is already erupted

and upper second molar is not yet erupted, the age can
be estimated as 7 – 12 years.
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Age determination based on Epiphysial fusion of the

long bones: Epiphysial fusion Age
Head of femur 16 -19
Head of Humerus 16 -23
Eg: In a skeleton Distal Humerus 13 -16
remain, if the
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Proximal Radius
U 14 -17
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Proximal Ulna 14 – 17
B
Distal Rdius 18 – 21
distal femur is
A
Distal Ulna 18 – 21
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already fused, age Meta carpals 14 – 17
. o orrgg
H aammss .
Distal femur 17 – 20
can be estimated P
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f4eexxProximal Tibia 17 – 19
Proximal Fibula 16 – 21
as above 20 Distal Tibia 16 – 19
Distal Fibula 16 -19
years. Metatarsals 15 – 17
AGE DETERMINATION BASED ON THE FUSION OF

SUTURES:
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The Three important sutures based on which age can be

determined are
Saggital suture , Lamboidal suture and Coronal suture but age can
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be predicted based on the Fusion of the other sutures also.
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Sagittal Suture: Full obliteration may never occur. The suture
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closes sometime between the ages of 30 years old and 40 years
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old. The suture has been seen to close
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remain open until someone in their late 50’s.
xaamm
normallyss . at age 26 and also
Coronal Sutures: Suture may begin to fuse by the age of

24. Average Suture closes between the ages of 30 years old
and 40 years old.
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Lambdoid Sutures: Full obliteration may never occur. Suture
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closes normally between the ages of 30 and 40 years old.
IM A . o orrgg
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AGE DETERMINATION BASED ON DENTAL PROFILE:
Dental profile is based on the five features.
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Attrition (Wear and tear on the occlusal surface of the teeth)
Periodontosis (Loosening of the gums)
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Formation of the secondary dentine in the pulp cavity.
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Cementum apposition at and around
Root transparency.
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teeth..
Age can be determined by assigning the numerical

values between 1&5 against the five features and
summing the values (An+Pn+Sn+Cn+RTn). The
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resulting value is called the dental profile. The dental
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profile value increases with age.
. o orrgg
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DETERMINATION OF SEX:
A comparison of
Male and Female
skulls : Male skull is
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B I rounded margins
IM A . o orand
rgg the female Skull
H PPddff44eexxaammss .
is having rounded
orbits with Sharp
orbits.
Male Female
Skeleton is Skeleton is comparatively
comparatively bigger smaller and slender
and stouter
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Shafts of the long bones
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Shafts of the long bones
B
IM A
are relatively rough
Articular surfaces and
are relatively smooth
Articular msurfaces . o orrgg and
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ends of the long bones
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endsPPddof the long bones are
are relatively large relatively small
Sex determination based on skull

Character Male Female
Size Bigger, Heavier, contour is Lighter, Smaller, Contour
more rough and rugged is Smoother and less
rugged.
Capacity Cranial capacity
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Cranial capacity
than that of females

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approximately 10% more approximately 10% less
than that of males
Cranial features
IM A
Supra orbital ridges,
. o orrggless prominent.
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Zygomatic arches,
x ss .
Occipital protruberances,
are more prominent.
Areas of muscular Well marked and Less prominent
attachment pronounced
Base of the skull Base of the skull More smooth and plain
Foramen magnum Large Small

Frontal sinuses Well developed Less developed
Orbital cavities Comparatively smaller , Bigger , nearly circular and
square, and placed low placed higher up. Have
U
down. Have round upper sharp upper edges
edges
IND
B
Fore head Steeper , Oblique and less Round and Bulging
Frontonasal junction
IM Around
There is a distinct
. o orrgg There is a smooth curve
Facial bones
H P
P d
d f4
f4eexxaammss .
angulation at the junction .
Massive , Rough , heavier

from fore head to the upper
part of the nasal bridge.
Smaller , delicate and more
and more laterally arched compressed sideways
Palate Larger , wider , Smaller , narrower

Broader and U and parabola shaped
shaped
Chin More prominent and More prominent and
square shaped
NDU square shaped

Cervical vertebrae Larger in males
B I Smaller in females
Teeth
IM A
Larger , Lower first
molars are often 5
Smaller in size.
Molars
. o orrgg are often 4
Nasal apertures
H cusped 4
PPddff4eexxaammss .
cusped
Usually placed higher Usually placed lower
up and are narrower. down and are broader
Sex determination based on the thoracic cavity
S.No Males Females

1. Thoracic cage is long and Thoracic cage is shorter
2.
narrower
Ribs are thicker and massive
and wider
NDU
Ribs are thinner and
delicate
B I
3. Ribs are
IM Aplaced less Ribs are placed more
. o orrgg
5.
obliquely
H
Ribs have less curvature
e
obliquely
P
P d
d f4
f4 exxaammss .
Ribs have more curvature
Sex determination based on Pelvis : Pelvis plays a key role in

sex determination as the female pelvis is specifically
equipped for the child birth.
NDU
B I
IM A . o orrgg
H P
P d
d f4
f4eexxaammss .
Sex determination based on the long bones:

• Normally, the long bones alone are not used alone to
estimate gender. However, if these bones are the only
DU
ones present, there are characteristics that can be used for
N
sex determination.
B I
•
I A
E.g. maximum length of humerus in females is 305.9
M . o orrgg
H
mm, while it is 339.0 mm in Pmales.
Pddf4
f4eexxaammss .
•Femoral intercondylar delpth and width are more in

males than in females.
NDU
B I
IM A . o orrgg
H P
P d
d f4
f4eexxaammss .
The following bones when found alone can determine sex

with different levels of accuracy
• Pelvis alone – 95%
• Skull alone – 92%
NDU
• Pelvis and skull – 98%
B I
•
M A
Long bones alone - 80 - 85%
I . o orrgg
•
•
H
Long bones and skull – 96%
Long bones and Pelvis – 96%
PPddf4
f4eexxaammss .
RACE DETERMINATION
Determination
of Race:
Caucasian
Trait
Orbital openings:
NDU
I
Nasal Index: <.48 round
Nasal Spine:
A
Prominent spine
B
Nasal Silling /
Guttering:
Prognathism:
HIM
Sharp ridge
(silling)
Straight P
P d
d f4
f4eexxaammss. o
. orrgg
Nasal spine:
Prominent
Shape of Rounded,
Orbital somewhat Progathism: straight
Openings: square
Determination of Race:
Mongoloid (Asian decent
and Native American decent)
Trait
Nasal Index .48-.53
NDU
I
Somewhat
B
Nasal Spine prominent
spine
Nasal Silling/
Guttering
M A
Rounded ridge
I . o orrgg
H 4 eexxaammss .
Prognathism Variable
Shape of
P
P d
d
Rounded,
ff4
Orbital somewhat
Openings circular
Determination of Race:
African: (everyone of
African decent and
West Indian decent)
Trait
Nasal Index >.53
NDU
Nasal Spine Very small spine
B I
Nasal Silling/
IM A . o orrgg
H ss .
No ridge (guttering)
Guttering
P d
d f4
f4eexxaamm
Prognathism
P
Prognathic
Shape of Orbital
Rectangular or square
Openings
STATURE ESTIMATION
Stature of an individual = Maximum Length of Bone X
Multiplication Factor of that Bone.
NDU
B I
IM A . o orrgg
H P
P d
d f4
f4eexxaammss .
FORENSIC DNA TESTING
NDU
Note: Technical aspects related to DNA testing are
covered in 9.4. Human DNA profiling
B I
IM A . o orrgg
H P
P d
d f4
f4eexxaammss .
CASE STUDIES Tandoor Murder Case (1995) Delhi

This was the first criminal case in India solved by the help
of DNA testing. In this case Shusil Sharma murdered his
DU
wife at home by firing three bullets in to his wife Naina
N
B I
Sahni’s body. He killed his wife believing that she had her
IM A
love affair with her classmate and fellow congress worker
. o orrgg
Matloob Karim.
H P
P d
d ff44eexxaammss .
After murdering his wife Sharma took her body in his car to the
Bagiya restaurant, where he and restaurant manager Keshav
Kumar attempted to burn her in a tandoor there. Police
DU
recovered Sharma’s revolver and blood-stained clothes and sent
N
I
them to Lodhi Road forensic laboratory. They also took blood
B
I A
sample of Sahni's parents, Harbhajan Singh and Jaswant Kaur
M
and sent them to Hyderabad for a DNA test.. o orrgg
H P
P d
d f4
f4eexxaa m m ss .
According to the lab report, "Blood sample preserved by the

doctor while conducting the post mortem and the blood stains on
two leads recovered from the skull and the neck of the body of
NDU
deceased Naina are of 'B' blood group." Later, the DNA test
I
proved beyond any reasonable doubt that the charred body is that
B
I A
of Naina Sahni who the biological offspring of Mr. Harbhajan
M
Singh is and Jaswant Kaur." And finally, Mr.ss.Shusil
o orrgg Sharma was
H f4
f4eexxaamm
PPdd evidences.
found guilty with the help of forensic
.
FORENSIC FACIAL RECONSTRUCTION

Forensic facial reconstruction (or forensic facial approximation) is the
process of recreating the face of an individual (whose identity is often
DU
not known) from their skeletal remains through an amalgamation of
N
I
artistry, anthropology, osteology, and anatomy. It is easily the most
B
subjective—as well as one of the most controversial—techniques in the
A
H M
field of forensic anthropology.
I P
P d
d f4
f4eexxaammss. o
. orrgg
Despite this controversy, facial reconstruction has proved

successful frequently enough that research and
methodological developments continue to be advanced.
DU
In addition to remains involved in criminal investigations,
N
B I
facial reconstructions are created for remains believed to be of
IM A
historical value and for remains of prehistoric hominids and
. o orrgg
humans.
H P
P d
d ff44eexxaammss .
Legal admissibility
In the U.S., the Daubert Standard is a legal precedent set in 1993
by the Supreme Court regarding the admissibility of expert
witness testimony during legal proceedings, set in place to
DU
ensure that expert testimony is based on sufficient facts or data,
N
B I
derived from proper application of reliable principles and
IM A
methods. When multiple forensic artists produce approximations
. o orrgg
H
for the same set of skeletal remains,
PPdd 4
ff4no
eexxaamm
twoss . reconstructions
ever the same and the data from which approximations are
are
created are largely incomplete.
Because of this, forensic facial reconstruction does not

uphold the Daubert Standard, is not considered a legally
U
recognized technique for positive identification, and is not
ND
admissible as expert testimony. Currently, reconstructions
I
B
are only produced to aid the process of positive identification
A
H M
in conjunction with verified methods.
I P
P d
d f4
f4eexxaammss. o
. orrgg
Types of reconstructions
Two-dimensional reconstructions
Two-dimensional facial reconstructions are based on ante mortem
photographs, and the skull. Occasionally skull radiographs are
DU
used but this is not ideal since many cranial structures are not
N
B I
visible or at the correct scale. This method usually requires the
IM A
collaboration of an artist and a forensic anthropologist. A
. o orrgg
H ss .
commonly used method of 2D facial reconstruction
eexxaamm was pioneered
PP
by Karen T. Taylor during the 1980s.ddf4
f4
Taylor's method involves adhering tissue depth markers on an

unidentified skull at various anthropological landmarks, then
photographing the skull. Life-size or one-to-one frontal and
DU
lateral photographic prints are then used as a foundation for
N
I
facial drawings done on transparent vellum. Recently
B
IM A
developed, the F.A.C.E. and C.A.R.E.S.
. o orrgg
H P
P d
d f4
f4eexxaammss .
computer software programs quickly produce two-

dimensional facial approximations that can be edited and
NDU
manipulated with relative ease. These programs may help
speed the reconstruction process and allow subtle
B I
variations to be applied to the drawing, though they may
IM A
produce more generic images than hand-drawn
. o o rr g
g artwork.
H PPddf4
f4eexxaammss .
Three-dimensional reconstructions
Three-dimensional facial reconstructions are either:
1) sculptures (made from casts of cranial remains) created
DU
with modeling clay and other materials or 2) high-resolution,
N
B I
three-dimensional computer images. Like two-dimensional
IM A
reconstructions, three-dimensional reconstructions usually
. o orrgg
H P
P d
d f44
f ss .
require both an artist and a forensic eanthropologist
exxaamm
Computer programs create three-dimensional

reconstructions by manipulating scanned photographs of the
unidentified cranial remains, stock photographs of facial
DU
features, and other available reconstructions. These
N
B I
computer approximations are usually most effective in
IM A
victim identification because they do not appear too
. o orrgg
artificial.
H P
P d
d f f44eexxaammss .
This method has been adopted by the National Center for

Missing & Exploited Children, which uses this method
NDU
often to show approximations of an unidentified decedent
I
to release to the public in hopes to identify the subject.
A B
HIM P
P d
d f4
f4eexxaammss. o
. orrgg
SUPERIMPOSITION:
Superimposition is a technique that is sometimes included
among the methods of forensic facial reconstruction. It is not
U
always included as a technique because investigators must
ND
already have some kind of knowledge about the identity of the
I
B
skeletal remains with which they are dealing (as opposed to 2D
A
H M
and 3D reconstructions, when the identity of the skeletal remains
I
are generally completely unknown).
PPddf4
f4eexxaammss. o
. orrgg
Forensic superimpositions are created by superimposing a

photograph of an individual suspected of belonging to the
NDU
unidentified skeletal remains over an X-ray of the
unidentified skull. If the skull and the photograph are of
B I
the same individual, then the anatomical features of the
M A
face should align accurately
I . o orrgg
H P
P d
d f4
f4eexxaammss .
ANTHROPOLOGY IN DESIGNING OF DEFENCE

AND OTHER EQUIPMENTS: (ERGONOMICS)
Ergonomics: It is the process of designing or arranging
U
workplaces, products and systems so that they fit the people
ND
who use them. Ergonomics aims to create safe, comfortable
I
B
and productive workspaces based on individual’s body size,
A
even attitudes.
H M
strength, skill, speed, sensory abilities (vision, hearing), and
I P Pddf4
f4eexxaammss. o
. orrgg
Anthropometry (from Greek anthropos, "human", and metron,

"measure") Anthropometry refers to systematic measurement
of the physical properties of the human body, primarily
DU
dimensional descriptors of body size and shape.
N
I
Alphonse Bertillon is considered to be the father of
B
Cuvier.
I A
anthropometry. The term Anthropometry was coined by
M . o orrgg
H PPddf4
f4ee x xaammss .
Examples:
1.Gun turret is a movable enclosure containing crew, a
projectile firing weapon, and a sighting mechanism. It’s
U
provides protection, visibility, and some cone of fire. It must
ND
be designed according to the anthropometric measurements
I
of the Gunner/crew.
A B
HIM P
P d
d f4
f4eexxaammss. o
. orrgg
2.Designing the Cockpit size and seat configuration of the fighter

and bomber jets according to the anthropometric measurements of
the pilot reduces his cockpit fatigue.
3.J.P.Henry, a physiologist designed Partial pressure suit. It is one
DU
piece non stretch suit with air tubes connected to it. During the
N
I
space travel, as the altitude increases air pressure decreases and the
B
IM A
body swells. The suit is designed in such a way that when the air
pressure decreases, air enters in to the airm . o
tubes orrgg and prevents the
H
muscle from swelling. Anthropometric
from neck to toe.
f4
f4eexxaa mss .
PPdd data is must to make the suit
4.Ejection seat in fighter jets: Originally this used to be a simple

metal bucket seat mounted in the aircraft. Later during World
war- II Germans made electable seat. It’s centre of gravity must
be derived for the “Man-equipment-seat combination”. For this,
the anthropometry of the pilot is important.
NDU
B I
5.Anthropometric Dummy enables to approximate the trajectories
IM A
of human bodies during crashes.
. o orrgg
H
6.Workspace, automobiles, clothing, eSports
PPddf4
f4 exxaammss . equipment
also be better designed with the knowledge of the anthropometric
data of the users.
etc can
NUTRITIONAL ANTHROPOLOGY
Nutritional anthropology is the study of food and nutrition
NDU
from evolutionary, behavioral, social and cultural
I
perspectives, and how these interact in the production of
B
I A
nutritional health at the individual, community and
M
population levels. ss.o.orrgg
H P
P d
d f4
f4eexxaamm
The types of research undertaken by nutritional

anthropologists:
(1) Sociocultural processes and nutrition: Biologically
DU
women need more nutrition due to Menstruation, childbirth
N
B I
and lactation etc., but culturally they receive less nutrition.
IM A
People of lower socioeconomic strata have . o orrlesser
gg access to
H
the good nutrition and also the PP
of essential nutrients.
ddff44ee
knowledgexxaammss .
about the sources
The Vicious cycle of Poverty:

poverty
U
Low earning
D
capacity Low intake of
food
B IN
IM A . o orrgg
H P
P d
d f4
f4
Impairedeex
productivity
xaammss . Under
nutrition
Stunted
development
of children
NDU
B I
IM A . o orrgg
H P
P d
d f4
f4eexxaammss .
(2) Social epidemiology of nutrition: Studies how particular

social factors place a particular group of people at risk for
nutritional problems or identifying health problems related
to nutrition.
NDU
I
E.g. Marasmus is a form of severe malnutrition
B
I A
characterized by energy deficiency. It can occur in anyone
M
with severe malnutrition but usually occurs. o r
in
o rggchildren.
H PPddf4
f4eexx a ammss .
Kwashiorkor is a form of severe protein malnutrition

characterized by enlarged liver with fatty infiltrates. Sufficient
calorie intake, but with insufficient protein consumption.
NDU
Such diseases are rarely found in the United States and other
B I
countries with a generally steady food supply. It’s most
M A
common in sub-Saharan Africa and other countries where
I . o orrgg
H
people routinely have a limited supply
P P d
d f4
f4eexxaa
ofmmss .
food.
(3) Cultural and ideational systems and nutrition: Religious

ideology like vegetarianism and prohibition of certain types of
food may lead to nutrition deficiency.
NDU
E.g. All 9 essential amino acids are found in meat products.
I
Soy, quinoa and buckwheat are the only plant-based foods that
B
contain all 9 essential amino acids, making them complete
A
HIM
protein sources as well. Other plant-based sources
PPddf4
beans and nuts are considered incomplete,
f4eexxaammss. o
. orrgg of protein
as they lack one or
like
more of the essential amino acids.
The most well-known sources of omega-3 fatty acids include

fish oil and fatty fish like salmon, trout and tuna. They contain
all the three main types of omega-3 fatty acids, (alpha-linolenic
DU
acid (ALA), eicosapentaenoic acid (EPA), and docosahexaenoic
N
I
acid (DHA). Plant foods typically only contain alpha-linolenic
B
I A
acid (ALA). This can make it challenging for vegans &
M
vegetarians to meet their omega-3 fattyaacid . o rrgg
needs.
o
H PPddf4
f4eexx a mmss .
(4) physiological adaptation and nutrition: Cold climate

populations tend to have high calory diet to generate more heat
in the body.
(5) Nutrition programs:
NDU
B I
IM A . o orrgg
H P
P d
d f4
f4eexxaammss .
SOME ADDITIONAL INFORMATION ON NUTRITION

generic chemical name Solubility Deficiency disease
Vitamin A Retinol, retinal, Fat Night-blindness
U
Vitamin B1 Thiamine Water Beriberi
Vitamin B2 Riboflavin
D
Water
IN
Ariboflavinosis
B
Vitamin B3 Niacin Water Pellagra ( Dementia,
A
Dermatitis)
Vitamin B5
HIM
Pantothenic acid
P
P d
d f4
f4eexxaammss. o
. orrgg Water Paresthesia
(Numbness,
burning,tingling in
skin)
Vitamin B6 Pyridoxine, Water Anemia,Neurological
problems
Vitamin B7 Biotin Water Dermatitis,enteritis
Vitamin B9 Folic acid Water
Megaloblast and
Deficiency during
pregnancy is
associated with birth
defects, such as neural
tube defects
U
Vitamin B12 Cyanocobalamin Water Megaloblastic anemia
IND (Large , abnormal

RBC)
Vitamin C
A
Ascorbic acid
B
Water Scurvy (Spongy,
IM
bleeding gums)
. o orrgg
Vitamin D
H P
P d
d f4
f4e
Cholecalciferol
exxaammss . Fat Rickets and
Osteomalacia (soft
bones)
Vitamin E Tocopherols Fat Deficiency is very rare;
mild hemolytic anemia
in newborn infants.
Vitamin K phylloquinone Fat

https://pdf4exams.org/ Bleeding diathesis
• Only two fatty acids are known to be essential for humans:

alpha-linolenic acid (an omega-3 fatty acid) and linoleic acid
(an omega-6 fatty acid)
NDU
B I
IM A . o orrgg
H P
P d
d f4
f4eexxaammss .
UNIT 12 & 9.4D GENETIC COUNSELLING AND EUGENICS

Scope of Eugenics
Eugenics Is a set of beliefs and practices that aim to improve the genetic quality
of a human population,
NDU
B I
A. POSITIVE EUGENICS is the use of genetic counselling, Genetic
IM A
screening and prenatal diagnosis to improve the genetic quality of a human
. o orrgg
H ss .
population. m
P
P d
d f4
f4eexxaa m
Genetic counselling is the process through which knowledge about the genetic
aspects of illnesses is shared by trained professionals with those who are at an
increased risk or either having a heritable disorder or of passing it on to their
unborn offspring.
Proband: A male individual who receive genetic counselling.

Propositus: A female individual who receive genetic counselling.
Genetic counselor: A qualified professional who provide genetics
counselling.
NDU
It's especially important to consider genetic counseling if:
a standard prenatal screening test has an abnormal result
I
•
A B
either parent or a close relative has an inherited disease or birth defect
either parent already has children with birth defects
M
•
HI P d
d f4
f4eexxaammss. o
. orrgg
the mother-to-be has had miscarriages or babies that died in infancy
the mother-to-be will be 35 or older when the baby is born. Chances of
P
having a child with Down syndrome increase with the mother's age.
• Belonging to certain ethnic or racial groups.
• Either parent had exposure to radiation, medicines, illegal drugs,
infections, or chemicals
Types of genetic counselling:

Prospective genetic counselling:
• This allows for the true prevention of disease
NDU
I
• Identifying heterozygous individuals for any particular defect by
B
A
screening procedures and explaining to them the risk of having affected
M
children if they marry another heterozygote for the same gene.
HI P
P d
d f4
f4ee xaammss. o
. orrgg
• In other words, if heterozygous marriage can be prevented or reduced, the
x
prospects of giving birth to affected children will diminish
• E.g. Recessive genetic diseases like sickle cell anaemia and thalassemia
Retrospective genetic counselling:

• Most genetic counselling is at present retrospective, i.e. the
hereditary disorder has already occurred within the family
DU
• The methods which could be suggested under retrospective genetic
N
counselling are:
B I
• Contraception
IM A
• Pregnancy termination and . o orrgg
H P
P d
d f4
f4eexxaammss .
• Sterilization depending upon the attitudes and cultural environment
of the couples involved.
Procedure:
• Regular genetic screening
• Construction and analysis of pedigree charts
• Risk assessment based on Hardy-Weinberg equations to decide about a
NDU
consanguineous marriage or marriage with a person having family history
I
of a genetic disease.
B
• Discussing the possibilities of egg or sperm donation if already married.
A
HIM
• Suggesting Specific prenatal diagnostic tests if already conceived.
4 eexxaammss. o
. orrgg
• Suggesting medical termination of pregnancy if needed.
P
P d
d ff4
B. Negative eugenics aims to reduce human suffering by “breeding out”
disease, disabilities and so-called undesirable characteristics from the
human population by killing or sterilising the individuals with such
characterisctics.
Early supporters of eugenics believed people inherited mental illness,

criminal tendencies and even poverty, and that these conditions could
be bred out of the gene pool.
NDU
I
Historically, eugenics encouraged people of so-called healthy, superior
B
stock to reproduce and discouraged reproduction of the mentally
A
M
challenged or anyone who fell outside the social norm. Eugenics was
HI P
P d
d f4
f4eexxaam ss. o
. orrgg
popular in America during much of the first half of the twentieth
m
century, yet it earned its negative association mainly from Adolf
Hitler’s obsessive attempts to create a superior Aryan race.
Holocaust was a genocide in which Nazi Germany systematically killed

around 6 million European jews. They believed that Germans were
racially superior and Jews were inferior. Jews were the primary victims
of Nazi racism but other victims includes like, Roma ( Gypsies) and
N
Extermination camps/Gas chambers were established.
DU
people with mental and physical disabilities. Killing canters /
B I
A
Eugenics in America took a dark turn in the early 20th century, led
HIM
by California. From 1909 to 1979, around 20,000 sterilizations
P
P d
d ff4eexxaammss. o
. orrgg
occurred in California state mental institutions under the guise of
4
protecting society from the offspring of people with mental illness.
Many sterilizations were forced and performed on minorities. Such

attempts can be called as negative Eugenics.
12. Applications of Anthropology: Anthropology of sports, Nutritional
U
anthropology, Anthropology in designing of defence and other
IND
equipments, Forensic Anthropology, Methods and principles of
personal identification and reconstruction, Applied human genetics –
B
Paternity diagnosis, genetic counseling and eugenics, DNA
A
M
technology in diseases and medicine, serogenetics and cytogenetics in
HI
reproductive biology.
P
P d
d f4
f4eexxaammss. o
. orrgg
1. “Applied human genetics has come to touch every sphere of human life”.
Discuss in light of recent advances in molecular anthropology” (2019,15M)
2. Anthropological inputs in facial reconstruction. (2019,10M).
DU
3. What are the methods of personal identification. Critically examine how
N
I
personal identification helps in criminal investigations. (2017, 20M)
B
IM A
4. Anthropology and designing of equipment. (2017,10M)
. o orrgg
H ss .
5. Describe the role of Anthropology in designing defence and other
m
equipment. (2016,15M)P
P d
d f4
f4eexxaa m
6. Forensic Anthropology. (2016,10M)
7. DNA technology in medicine (10M,2015)
1. Elucidate the role of Anthropology in selection and monitoring of sports

persons. (15M,2015)
2. Forensic Science can help in criminal investigations. Discuss. (20M,2015)
3.
DU
Application of Anthropometry in designing (12M,2012)
N
4. Genetic counseling (12M, 2012)
B I
5.
6.
IM A
Personal identification (25M, 2011)
rrgg
Role of Forensic anthropology in the field of personal identification (20M,
. o o
2010)
H P
P d
d f4
f4eexxaammss .
7. Role of Anthropology in solving medico legal problems (20M, 2009)
8. Briefly discuss the Applications of the knowledge of human osteology in
forensic investigations (20M, 2012)

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SEROGENETICS AND CYTOGENETICS OF

Serogenetics: Serogenetics is branch of genetics that is

1. Testosterone: Testosterone is the primary androgen(sex

• Production of testosterone is controlled by the release

Males need estrogen, too! normal bone development and

•Estrogens are steroids. They participate in the monthly

Regulation of Estrogen and Progesterone

Progesterone production is stimulated by luteinizing

4.HCG (Human chorionic gonadotropic hormone): a

• Study of body requirements for various sports is called

• Phenotypic variations like size, physique, body

• Making use of different techniques of Kinanthropology,

Classification of somatotypes based on height-weight

• Medium – medium – Long distance swimming and long

William Herbert Sheldon classified the human somatotypes

A somatotype number of three digits is determined for an

The classification numbers are negatively correlated, so that

People with different body shapes, tend to be good at different

The image below gives some examples of ideal somatotypes

Physical traits suitable for different sports:

Skating: Skaters need balancing. Therefore short and light

Weight lifting: For weight lifting , limb height should be less

Hockey, Tennis, Badminton, Shuttle etc.: characters like

Long distance running or swimming: Long distance

During severe exercise, in the muscle, partial anaerobic

Therefore, by the time aerobic respiration gives 38ATP (1

The sports men in general are supposed to have high

• Vital capacity: The capacity of the lungs to expire

The genetic prerequisites of the sports men:

APPLIED HUMAN GENETICS

2. Cut a suitable vector with the same restriction endonuclease.

• Bacterial artificial chromosomes: can carry up to 300 kb of inserted

Proteins that can be produced using Gene cloning:

Recombinant vaccines: Vaccines made using recombinant DNA

TTAGG / CACGT / ACGAT

Gene therapy is of two types.

2.Embryonic gene therapy/ Germ line gene therapy:

DNA FINGER PRINTING / DNA TESTING / HUMAN

2. Restriction fragment length polymorphism (RFLP):

DNA TECHNOLOGY (USE AND APPLICATION) REGULATION

• It also establishes a DNA regulatory board. Every laboratory that

12. FORENSIC ANTHROPOLOGY,

FORENSIC AGE DETERMINATION:

AGE DETERMINATION BASED ON TEETH

Upper Primary Teeth Development Chart

Upper Teeth When tooth emerges When tooth falls out

Lower Primary Teeth Development Chart

Central incisor 6 to 10 months 6 to 7 years

PERMANENT TEETH ERUPTION CHART

Lower Permanent Teeth Development Chart

E.g. In a skull if upper first molar is already erupted

Age determination based on Epiphysial fusion of the

AGE DETERMINATION BASED ON THE FUSION OF

The Three important sutures based on which age can be

Coronal Sutures: Suture may begin to fuse by the age of

AGE DETERMINATION BASED ON DENTAL PROFILE:

Dental profile is based on the five features.

Age can be determined by assigning the numerical

NDU square orbits with

Sex determination based on skull

than that of females

Foramen magnum Large Small

Massive , Rough , heavier