Content

ORY:
he term gene was coined by W JOHANSEN in 1909.
.R. GARROD (1908) proposed one gene –one product hypothesis.
ene theory was proposed by T.H.MORGAN in 1911.
. Pauling and Ingram (1949) establish the role of genes in protein synthesis.
ene concept was given by Sutton.
regor Johann Mendel is known as the ‘Father of genetics”.

NITION OF GENETICS:
s is the branch of biological sciences which deals with the transmission of characteristics from parents to offsprings.
OR
s is a branch of biology that deals with the heredity and variation of organisms.

CEPT:
m Genetics was introduced by Bateson in 1906. It has been derived from the Greek word ‘gene’ which means ‘to become’ or ‘to

NITION OF GENE:
ne is the fundamental, physical, and functional unit of hereditary. A gene is comprised of nucleotides that is responsible for the
cal and heritable characteristics of an organism.

OR

is defined as a unit of inheritance composed of a segment of D.N.A or chromosome situated at a specific locus (gene locus) whi
a coded information associated with a specific function and can undergo crossing over as well as mutation.

RACTERISTICS OF GENE:
Determine the physical as well as physiological characters.
Situated in the chromosome.
Occupies a specific position known as ‘locus’.
Occur in functional states called ‘alleles’.
Some have more than 2 alleles known as multiple alleles.
Some may go sudden change in expression called as mutant gene(mutation).
Can duplicate itself very accurately.
Synthesizes a particular protein.
Determine the sequence of amino acidin the polypeptide chain(The genetic code).
The gene sequence is always written 5’3’
NCTION OF GENE
They control the morphology or phenotype of individual.
Genes undergo mutation and change their expression.
Replication of genes is essential for cell division.
They control the structure and metabolism of the body.

OMOSOME:
rd chromosomes come from the greek word chroma which means colour and soma which means body. It was due to their proper
rained very strongly by some dyes.

ion:
mosome is packaged and organized chromatin, a complex of macromolecules found in cell, consisting of DNA protein and RNA

OR

ure in all living cells that consists of a single molecule of DNA bonded to various proteins and that carries the genes determining
y.

ACTERISTICS OF CHROMOSOMES:

chromosome is made up of DNA tightly coiled many times around proteins called histones that support its structure.

mosomes are not visible in the cell’s nucleus—not even under a microscope—when the cell is not dividing. However, the DNA t
s up chromosomes becomes more tightly packed during cell division and is then visible under a microscope.
an cell contain 23 pairs of chromosomes. 22 pairs autosomal and 1 pair sex chromosomes.
romosomes inherited from mother and 23 chromosomes from father.
hromosomes:XX for female and XY for male.
chromosome has a constriction point called the centromere, which divides the chromosome into two sections, or “arms.” The sh
chromosome is labeled the “p arm.” The long arm of the chromosome is labeled the “q arm.”
ocation of the centromere on each chromosome gives the chromosome its characteristic shape, and can be used to help describe t
on of specific genes.

CTIONS OF CHROMOSOMES:
Chromosomes control the synthesis of structural proteins and thus help in cell division and cell growth.
They control cellular differentiation.
By directing the synthesis of particular enzymes, chromosomes control cell metabolism.
Chromosomes produce nucleoli for synthesis of ribosomes.

r deoxyribonucleic acid, is the hereditary material in humans and almost all other organisms. Nearly every cell in a person’s bod
e DNA. Most DNA is located in the cell nucleus (where it is called nuclear DNA), but a small amount of DNA can also be found
ondria (where it is called mitochondrial DNA or mtDNA).

RACTERISTICS OF DNA:
The information in DNA is stored as a code made up of four chemical bases: adenine (A), guanine (G), cytosine (C), and thymin
Human DNA consists of about 3 billion bases, and more than 99 percent of those bases are the same in all people. The order, or
sequence, of these bases determines the information available for building and maintaining an organism, similar to the way in wh
etters of the alphabet appear in a certain order to form words and sentences.
An important property of DNA is that it can replicate, or make copies of itself. Each strand of DNA in the double helix can serve
pattern for duplicating the sequence of bases. This is critical when cells divide because each new cell needs to have an exact cop
DNA present in the old cell.
DNA is made of two polynucleotide chains(made of many nucleotide)
A nucleotide has three component- nitrogenous base, a pentose sugar, and a phosphate group. There are two types of nitrogenous
purines and pyrimidines.
Purines- Adenine and Guanine Pyrimidines- Cytosine and Thymine

CTURE OF DNA :
ON AND CRICK DNA DOUBLE HELIX MODEL):

, James Watson and Francis Crick gave famous double helix model of structure of DNA. The salient features of double helix stru
are as follows:

It is made of two polynucleotide chain, where the backbone is constituted by sugar-phosphate, and bases project inside.
The two chains have antiparallel polarity. It means, if one chain has the polarity 5` 3`, the other has 3`5`.
The bases in two strands are paired through hydrogen bond (h-bond) forming base pairs (bp). Adenine forms two hydrogen bond
Thymine from opposite strand and vice-versa. Similarly, Guanine is bonded with Cytosine with three H-bonds. As a result, alwa
purine comes opposite to pyrimidine. This generates approximately uniform distance between the two strands of the helix.
The two chains are coiled in a right-handed fashion. The pitch of the helix is 3.4 nm and there are roughly 10 bp in each turn.
Consequently, the distance between a bp in a helix is approximately equal to 0.34nm.
The plane of one base pair stacks over the other in double helix. This, in addition to h-bonds, confers stability of the helical struc

MOSOMAL- SEX DETERMINATION:

sex of a baby is determined by the type of male gamete that fuses with the female gamete.
uman beings have 23 pairs of chromosomes in their nuclei. Out of these 23 pairs, the last pair is known as the sex chromosome.
human males have 23 pairs of chromosomes including XY sex chromosomes.
efore, the male gamete has 22 chromosomes and either an X or Y sex chromosome.
e gametes can be of two types: 22+X or 22+Y
ales have 23 pairs of chromosomes including XX sex chromosomes. Therefore, their gametes can only have 22 chromosomes an
x chromosome.
e of female gametes: 22+X
, as the mother provides only X chromosome, the sex of the baby is determined by the type of male gamete (X or Y) that fuses w
romosome of the female.

ORTANCE OF GENETICS IN NURSING:

Understands genetics basis of disease.

Early and effective diagnosis of genetic disorder.
Contributes towards health promotion with genetic aspects.
Management and care of genetic disorders.
Genetic information and counseling referral services.
Social and ethical issues in genetics.