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GENETICS
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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.
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FATHER OF GENETICS
Gregory Mendel
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Composed of 2
polymers of nucleotides.
Polymers are oriented
in antiparallel.
Molecule resembles a
spiral staircase of
complementary base
pairs.
DNA MOLECULE
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“Double helix”
proposed by Watson
and Crick (1953).
Antiparallel
backbones.
Complementary
base pairing:
Adenine to Thymine
Cytosine to Guanine
STRUCTURE OF DNA
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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
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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
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CLASSIFICATION OF
GENETIC DISEASES
Single gene defects/ Mendelian disorders
Disorders with multifactorial or polygenic
inheritance
Cytogenetic disorders
Disorders showing a typical patterns of
inheritance
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VARIOUS DISEASES
ASSOCIATEDDiabetes mellitus
Hypertension
Gout
Congenital heart disease
Neural tube defects
Skeletal abnormalities
Coronary artery disease
Bipolar disorder
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DIAGNOSIS OF GENETIC
DISEASE
FISH(Fluorescence in situ
hybridisation)
Conventional cytogenetic
analysis
Molecular analysis
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THANK YOU