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WHAT IS GENETICS?????
The branch of biology that deals with heredity,
especially the mechanisms of hereditary
transmission and the
variation of inherited
characteristics among
similar or related
organisms
Terminology:
Gene.
Alleles- Dominant.
- Recessive.
Nucleotides.
Codon.
Genetic Code.
GENE
Biological unit of heredity.
RNA formation
Protein formation
46 chromosomes. 22 pairs
Autosomes and 1 pair Sex
chromosomes.
NUCLEOTIDE: group of molecules that
when linked together, form the building blocks
of DNA and RNA; composed of phosphate
group, the bases:adenosine,cytosine,guanine and
thymine and a pentose sugar.In case of
RNA,thymine base is replaced by uracil.
CODON: series of three adjacent bases in one
polynucleotide chain of a DNA or RNA
molecule which codes for a specific amino acid.
GENETIC CODE: the sequence of
nucleotides in a DNA or RNA molecule that
determines the amino acid sequence in the
synthesis of proteins.
Congential Disease.
Diseases which are present at birth.
Hereditary/Familial Disease.
Diseases which are derived from one’s
parents and trasmitted in the gametes through
the generations.
Alkylating agents
5- bromouracil
Insertion or
deletion of one or
two base pairs
alters the reading
frame of the DNA
strand.
Trinucleotide Repeat
Mutations:
set of genetic
disorder caused by
trinucleotide repeat in
certain genes
exceeding
normal,stable
threshold e.g. Fragile
X Syndrome.
Classification Of Genetic
Diseases:
Single Gene Defects/Mendelian Disorders.
Cytogenetic Disorders.
Autosomal Dominant.
Autosomal Recessive.
X-Linked Recessive.
X-Linked Dominant.
Autosomal
Dominant
Disorders.
Manifested in heterozygous states.
Marfan’s Syndrome.
Ehler-Danlos Syndrome.
Marfan’s Syndrome:
Mutation in the fibrillin gene.
Rate of recurrence is 2 to 7%
COMMON DISEASES ASSOCIATED:
Diabetes mellitus
Hypertension
Gout
Schizophrenia
Bipolar disorder
Skeletal abnormalities
Patterns of breakage:
• Translocation.
• Isochromosomes.
• Deletion.
• Inversions.
• Ring Chromosomes.
TRANSLOCATION
Transfer of a part of one chromosome to
another chromosome
Translocations are indicated by t
E.g. 46,XX,t(2;5)(q31;p14)
Balanced reciprocal translocation is not harmful
to the carrier, however during gametogenesis,
abnormal gametes are formed, resulting in
abnormal zygotes
Centric fusion type or robertsonian
translocation:
The breaks occur close to the centromere,
affecting the short arms of both choromosomes
Transfer of the chromosome leads to one very
large and one extremely small chromosome
The short fragments are lost, and the carrier has
45 chromosomes
Such loss is compatible with survival
DELETION
Loss of a portion of chromosome
Testicular atrophy.
Infertility.