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Genetics

Definition:
Branch of biologic science that deals
with transmission of characters from
parents to offsprings.
Important applications of genetics
1.Contributes to better understanding of
aetiology of diseases
2.Contributes to appreciation of
mechanism behind the normal variation
between individuals.
3.Prevention of genetic disorders through
prenatal diagnosis and genetic
counseling
4.Treatment of genetic disorders through
correction or replacement of the
defective gene (genetic engineering)
5.Resolution of medical legal problems
involving disputed parentage through
determination off:
a.Blood groups
b.Other hereditary characteristics
c.DNA
The genes
Hereditary material that code the characters.
Genes are linearly arranged on the
chromosomes.
Each gene occupies a specific locus.
Each is made of DNA, in which genetics
information lies.
Genes are always paired. If a particular
individual caries identical genes, he is
said to be homozygous.
If he caries different genes, he is
heterozygous.
Mode of inheritance of characters
Dominant trait
Only one gene is required to express
(produce) the character.
Co-dominant
Both blood group pantigens A & B
Homozygous
Two genes are necessary for the character
to express all inborn errors of metabolism.
X-clinked
Dominant:
Affected males transmit to daughters.
Males become carries. e.g Vitamin D
resistant rickets.
Recessive
disease in males. Females carries e.g
Haemophilia
Diabetes inspidus
Duchenne muscle dystrophy.
CHROMOSOMES
Red-like structures made of
chromatia.
They are the seat of genes.
Like genes, they exist in pairs.
Human cells have 22 pairs of identical
chromosomes (antosomes) and a pair
of sex
Chromosomes, the total being 46. The
sex chromosomes are labeled XY in
males and XX in females.
Diploid
Total number of chromosomes in
normal cell (46)
Haploid
Number of chromosomes in the
spermatozoa and ova (1/2 the
number that in normal cells.)
Denver classification (modified)
Group A No 1 to 3
B No 4 to 5
C No 6 to 12
D No 13 to 15
E No 16 to 18
F No 19 to 20
G No 21 to 22
Sex chromosomes XX in female, XY in males.
CHROMOSOMES
MITOSIS
MEIOSIS
Non-disjunction
Failure of separation of a pair of
chromosomes to separate at MEIOSIS, so
that both members of the pair are carried to
same daughter nucleus, and the other
daughter is lacking that particular
chromosome.
Euploid
Chromosome number exactly
multiple of haploid (23) 46, 69, 92
etc.
Aneuploid
Deviation from one of euploid.
Chromosomal disorders
Polypoid
The number of chromosomes is more that
normal.
Examples:
Klinefelters syndrome XXY
Tripple X XXX (Super female)
XYY males
Chances of mental retardation and
skeletal dedects are enhanced by extra
X chromosome.
Turners syndrome (45, X 0)
Non- disjunctions chromosomes
disorders
Trisomy 21 (Down syndrome)
Trisomy 13-15 (patani syndrome)
Trisomy 16-18 (Edward syndrome)
Delation/translocation
Tips (arms) are broken and rejoin other
chromosomes
Translocation
Some types of down syndrome
Delation
Cat cry syndrome
Mosaisims
Some cells have normal number of
chromosomes while other cells have
trisomias.
Chromosomal studies

Indications
1.Confirmation of diagnosis in suspected
chromosomal disorders e.g:
Down syndrome
Klinefelters syndrome
Turners syndrome
2.Investigation of a child with ambigous
sex
3.Determination of sex of an unborn
child
4.In separation of x or Y bearing
spermatozoa
5.Determination of effects of
environmental or occupational
hazards on chromosomes.
Chromosomes Studies Technique
1.Buccal smear
Sex chromatin or barr bodies
1.Blood (leucocytes karyotyping)
In which the complete chromosomal
implement of an individuals
leucocytes is studied.