NAME= TARUN YADAV

REGISTRATION NO.= 20160027

GENETICS ASSINGM ENT

TOPIC= HUMAN GENETICS AND GENOMS

In this topic we will discuss the genetics of various characters and analysis different aspect of human
genetics.

Human Chromosomes
Chromosome number and morphology
The technique, is developed by J.H. Tjio and A. Loaven in 1956, enabled the determination of correct
chromosome number (2n=46) in human being for the first time later on the basis of morphology, 23
chromosomes in human being were arranged in seven group.fig . no.23.1 shows chromosomes of human male
at metaphase.

Arrangment of 23 chromosomes of human beings in seven group

Group Chromosomes

A 1-3

B 4-5

C 6-12,X

D 13-15

E 16-18

F 19-20

G 21-22

Bading techniques
These techniques use specific dyes, which some times fluorescent and which reveal structural differences
between different human chromosomes. When subjected to certain treatments and then stained with chemical
dye giemsa, chromosomes generate a series of bands(fig 24.2). The G-band reveal the intercalary bands and C-
bands reveal only the centromeric regions consisting mainly ofconstitutive rather than facultative
heterochromatin shown in fig. 24.3
NAME= TARUN YADAV

REGISTRATION NO.= 20160027

Determination of sex
Presence of Y Chromosome determines maleness and its absence of determines femaleness. In some rare
chases where males have been found to be XX and females were found to be XY. There can be 2 reason for that-

(1) A sex reversal gene SRY located on the Y- chromosome, leads to XX males and XY females .
(2) Translocation of a small segment of Y- chromosome( lying close to centromere on short arm), to an X
chromosome in XX males and its deletion from the Y – chromosome in XY females. As a result of these XX
males and XY females are formed.

Sex Linked Inheritance

Colour blindness and haemophilia are carried on X – chromosome. Hair on the ears like characters are
carried on Y chromosome.

Chromosomal Aberrations
A number of abnormalities could be attributed to chromosomal aberrations.

Triplody
Triploid individual had three complete sets of autosomes and XXY chromosomes. It showed abnormality like
syndactyly og hands and feet and wassmaall jawed obese. This individual servived only upto death.

Aneuploidy involving sex chromosomes

It involve X chromosome.

(a) Turners syndrome – it is characterized by monosomy of XY type. These are immature females with
webbed neck.
(b) Klinefelters syndrome- it is characterized by trisomy XXY these are male individuals , who are
phenotypically fairly normal but hve low sperm count.

Autosomal aneuploid-
trisomy for different autosomes is known , they are as following

(1) trisomy 21 , (2)trisomy 17, (3) trisomy 18, (4) trisomy D.

Most frequent is first one it has small chromosome ans does not cause lethality. Phenotypic abnormality
are slant of eyes ,tonue, sagging mouth, slow mental growth. The life expectancy in this case is 8 to 12 years.

The trisomy 17 and D has more serious effects like small mouth, low set ears, heart defect , flexion anormaly of
fingers and toes , webbed neck.
NAME= TARUN YADAV

REGISTRATION NO.= 20160027

Dizygotic and Monozygotic Twins
Whenever there are multiple births, these may usually be due to ovulation of 2 or more than 2 eggs, each
being independently fertilized by separate sperms. In other words, in case of twins, two zygotes are formed.
These twins are called dizygotic twins and since two different eggs and two different sperms were involved, the
twins will not be identical .

Inborn Errors in Metabolism

A.E. Garrod described certain hereditary diseases which cause certain defects in metabolism. The 3
diseases, namely

(1) alcaptonuria, (2) phenylketonuria, (3) albinism, result due to block in the metabolism where
phenylalanine is broken down and utilized.

Sickle- Cell Anaemia

Sickle cell amaemia is a blood disease where the red blood cells become sickle shaped as compared with
round shape in normal indivisual. This results into various abnormalities and may ultimately resuil into death.

Chromosome Mappings in Humans

Criteria used for this purpose include the following-
(1) Family linkage studies,
(2) Segregation from cell hybride,
(3) Correlation of loss of marker from cell hybrids with radiation induced loss of chromosome segment,
(4) Linkage disequilibrium in population with another mapped marker .
it may be noted that the basic technique, which has largely been used is the segregation in cell hybrids.
Segregation in somatic cell hybrids
Cell fusion- the first step in segregation of somatic cell hybrids involving humen cell is cell fusion. Induction of
fusion of dissimilar cells involved the use of inactivated virus.

Genetic Linkage map of human X chromosome- The linkage map of X chromosome was prepared by
first locating DNA markers using either a physical method due to in situ hybridization, or biochemical method
where marker DNA was hybridized on the DNA of individual hybrid cell lines, each containing a different
portion of human X chromosome. In the later case, absence of hybridization was used to infer that the marker
is located on the missing segment of X chromosome.gene distance and linear order of genes were determined
by analyzing families with the help of large number of DNA marker.

Gene Transfer in Mammalian Cells

NAME= TARUN YADAV

REGISTRATION NO.= 20160027

During the 1980 , techniques in mammals were also developed for transfer of genes, which were either
isolation from native cells or synthesized organochemically. The gene may either be isolated and inserted in the
form of whole chromosomes or chromosome segments, or may be used in the form of DNA samples used for
transfection of isolated host cells in culture.

Use of Human Genrtics in Medical science

We can avoid or reduce some diseases by the knowledge of genetics of human diseases. 5 ways of doing so
are-
(1) Genetic counseling- A genetic counselor should first be able to identify the disease and therefore
should be first a clinician and then a geneticist. Trhe simple case asking for genetic counseling will be those
having a family history of disease.
(2) Amniocentesis and antenatal diagnosis- when a pregnant woman is known to have a chance of
bearing a child with a genetic defect , it may be desirable to diagnose the condition in fetus. This can be done
by taking some cells from the fetus by drawing a few milliliters of amniotic fetus with the help of a hypodermic
needle, the technique is called amniocentesis.
(3) Gene therapy- If a child is diagnosed to carry a defective gene leading to disability, one may like to get
this gene replaced by a normal functional gene . this gene therapy . gene therapy can be used at two different
levels- (1) patient therapy, (2) embryo therapy.
(4) Making a choice of babys sex – Married couples have always been interested in knowing the sex ,
and sometimes in making a choice about the sex , of their babies. The chromosome about the sex , of their
babies. The chromosome techniques have made it possible to know the sex of developing fetus by drawing
amniotic fluid and preparing karyotypes from cells derived from the fetus and floating in this fluid.
(5)DNA fingerprinting in forensic science- In this technique ,DNA will be isolated from blood stains,
semen stain or hair roots and will be subjected to southern bloting and DNA hybridization with the help of
specific DNA probe. This will reveal polymorphism in dna , which has a very stable inheritance. For this
purpose, DNA from blood semen or urine stains may also be amplified using PCR technique.