GENETICS

WHAT IS GENETICS??
Thai branch of biology that
deals with heredity,
especially the mechanisms
of hereditary transmission
and the variation of
inherited characteristics
among similar or related
organisms.
FATHER OF GENETICS

Gregory Mendel
 DNA MOLECULE
Composed of 2
polymers of nucleotides.
Polymers are oriented
in antiparallel.
Molecule resembles a
spiral staircase of
complementary base
pairs.
 STRUCTURE OF DNA
Double helix
proposed by Watson
and Crick (1953).
Antiparallel
backbones.
Complementary base
pairing:
Adenine to Thymine
Cytosine to Guanine
EXAMPLES OF CONDITIONS
CAUSED BY DNA CHANGES
Abnormal number of chromosomes
-Downs syndrome, Edwards syndrome,
Deletion
-Cri Du chat, Williams syndrome
Sex Chromosome Abnormalities
-Turner syndrome, Klinferlters syndrome
Single Gene Mutations
-Cystic Fibrosis, Sickle Cell anaemia
 GENETIC TESTING AND
PROFILING
Take a sample of cells (blood,
hair root)

Extract the DNA from cells

Cut up the DNA

Separate the DNA fragments

Analyse the DNA fragments

 CLASSIFICATION OF
GENETIC DISEASES
Single gene defects/ Mendelian disorders

Disorders with multifactorial or polygenic

inheritance

Cytogenetic disorders

Disorders showing a typical patterns of

inheritance
VARIOUS DISEASES
ASSOCIATED
Diabetes mellitus
Hypertension
Gout
Congenital heart disease
Neural tube defects
Skeletal abnormalities
Coronary artery disease
Bipolar disorder
DIAGNOSIS OF GENETIC
DISEASE

FISH(Fluorescence in situ
hybridisation)
Conventional cytogenetic
analysis
Molecular analysis
THANK
YOU