austin journal of genetics and genomic research
TRANSCRIPT
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
Composed of 2
polymers of nucleotides.
Polymers are oriented
in antiparallel.
Molecule resembles a
spiral staircase of
complementary base
pairs.
DNA MOLECULE
“Double helix”
proposed by Watson
and Crick (1953).
Antiparallel
backbones.
Complementary
base pairing:
Adenine to Thymine
Cytosine to Guanine
STRUCTURE OF DNA
Abnormal number of chromosomes
-Down’s syndrome, Edwards syndrome,
Deletion
-Cri Du chat, Williams syndrome
Sex Chromosome Abnormalities
-Turner syndrome, Klinferlter’s syndrome
Single Gene Mutations
-Cystic Fibrosis, Sickle Cell anaemia
EXAMPLES OF CONDITIONS
CAUSED BY DNA CHANGES
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
ASSOCIATEDDiabetes 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