GOOD MORNING

BASIC GENETICS
 GENES
It may be defined as the unit of inheritance which is
carried from the parent by a gamete in a chromosome
and controls the expression of a character in the young
one in cooperation with its allele, other genes and
environment.

Chemically, a gene is a linear segment of DNA.

self-reproducing, and transmitted from parents to

progeny.
 ALLELOMORPHS (ALLELES)
A pair of genes that control the two alternative
expressions of the same character and have the same
loci in the homologous chromosomes .
 STRUCTURE OF GENE
The original concept of a gene was based on the
analysis of the structure of the human -globin gene.

It consists of alternate regions of coding and non-

coding sequences.

The coding sequences are called as EXONS which are

separated by the non-coding ones are called as
INTRONS.
The number and size of introns in various genes is
extremely variable.

On the other hand, larger the gene, greater will be the

number and size of exons.
TYPES OF GENES
UNIQUE SINGLE COPY GENE
It codes for polypeptide which are involved in various
cellular function including that of enzymes,
hormones, receptors and structural changes.

MULTIGENE FAMILIES
These are the groups of many genes which have
similar functions and arise from gene duplication
events with evolutionary changes.
eg: and -globin gene clusters
The multigene families are further subdivided
into;
 PSEUDOGENES
Genes that closely resemble structural genes but
which in general are not functionally expressed are
called as pseudogenes.

They arise either from genes undergoing duplication

which are rendered silent via mutations,
OR
As a result of insertion of complementary DNA
sequences.
 GENETIC DISEASES
Various disorders related to gene defects are;
 SINGLE GENE DISORDER

The action of one gene is exerted independently that

is, in a NON-ADDITIVE fashion.

For example;
Alkaptonuria
Albinism
 MULTIFACTORIAL DISORDERS
These disorders occur due to interaction of many
genes, each exerting a small ADDITIVE EFFECT.

For example;
Cleft lip and palate
Hypertension
Diabetes mallitus
 ACQUIRED SOMATIC DISEASE
Not all genetic errors are present from conception.

Some occurs during mitosis because of DNA copy

errors,
OR
Occurs as a result of errors in chromosome separation

Eg: Myeloproliferative disorders like polycythemia vera

CHROMOSOMAL ABNORMALITIES
Breaks and subsequent recombinations during
crossing over of the chromatids may involve alterations
in sequence or loss of factors. Such structural changes
are known as CHROMOSOMAL ABERRATIONS.

Various forms involved are;

INVERSION
Involves two breaks in a chromosome where the
parts are reversed leading to reversal of
sequences.

TRANSLOCATION
It involves the exchange of parts between
homologous chromsomes.
DELETION/DEFICIENCY
DUPLICATION

A deleted part of the chromosome, may not be

lost ; rather it may become attached to its
counterpart on the homologous chromosome.
This results in a double dose or duplication of
genetic information.
CONDITIONS RESULTING FROM
ABERRATIONS
 DOWNS SYNDROME
Also known as TRISOMY21 or MONGOLISM.
It occurs when a chromosome is unable to detatch
from the chromosome pair leading to trisomy.
Its characterized by slanting eyes,
flat face and nose,
massive tongue,
high palatal vault and
mental defectiveness.
 TURNERS SYNDROME
It occurs due to the MONOSOMY (XO) of the
chromosome pair.
It is characterized by short stocky females with
bilateral skin fold extending from ear to shoulder
called as webbing of neck.

Secondary sexual characters and genitals do not

develop.
OY is the male counterpart which is more lethal as
X chromosome carries the genetic information for
embryonic development
KLINEFELTERS SYNDROME(XXY)
It includes symptoms such as sterility,
development of certain
female secondary sexual
characters like high pitch
in voice and
breast development.
Mental retardation is a common finding.

Males with XYY syndrome are very tall and anti social,
believed to be more prone to criminal behaviour.
 GENE THERAPY
It is defined as the replacement of a deficient gene
product or correction of an abnormality gene.

It can be carried out

In vitro, occurs by treatment
of cells from an affected
individual in culture, with
reintroduction into the
affected individual.

In vivo, occurs when cells

cannot be cultured or be
replaced in the
affected
individual.
METHODS OF GENE THERAPY