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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.
In
cells, a gene is portion of
DNA
Gene (DNA)
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.
Nonsense
Mutations.
• Frameshift
Mutations:
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 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.
Fibrillin
important component
of microfibrils in Elastin.
Rate of recurrence is 2 to 7%
COMMON DISEASES ASSOCIATED:
Diabetes mellitus
Hypertension
Gout
Cleft lip and palate
Schizophrenia
Bipolar disorder
Congenital heart disease
Skeletal abnormalities
Neural tube defects
Coronary artery disease
Cytogenetic
Disorders
.
KARYOTYPING
Basic tool of cytogeneticist
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
However, during gametogenesis difficulties arise
ISOCHROMOSOMES
Result when one arm of a chromosome is lost and the
remaining arm is duplicated, resulting in a chromosome
consisting of two short arms only or of two long arms.
DELETION
Loss of a portion of chromosome
This can be terminal (close to the end of the
chromosome on the long arm or the short arm), or it can
be interstitial (within the long arm or the short arm).
A ring chromosome is a variant of deletion.It
occurs when break occurs at both the ends of
chromosome with fusion of the damaged ends.
INVERSIONS
Occur when there are two breaks within a single
chromosome with inverted reincorporation of
the segment.
Since there is no loss or gain of
chromosomal material, inversion carriers are
normal.
An inversion is paracentric if the inverted
segment is on the long arm or the short arm
.
The inversion is pericentric if breaks occur
on both the short arm and the long arm .
General Features of Cytogenetic Disorders:
Associated with absence, excess, or abnormal
rearrangements of chromosomes.
Testicular atrophy.
Infertility.
Primary
hypogonadism in
phenotypic females.
Results
from partial or complete monosomy
of the X chromosome.
Most
common cause is absence of one
X chromosome.