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Cell Division
Meiosis - It consists of first and second
meiotic divisions. The daughter cellls have
half the number of chromosomes as
compared to the mother cell, and their
genetic information is not identical.
Meiosis comprises of first and second
meiotic divisions
There is duplication of the DNA during
interphase preceeding the first meiotic
division ,
2
DIFFERENCE
MITOSIS
MEIOSIS
One division
Two divisions
Chromosomes 2n
Chromosomes 1n
CHROMOSOMES
Chromosomes
Chromosomes are thread-like deep staining bodies
within the nucleus of a cell.
It is composed of DNA & Protein.
It carries genetic information or hereditary
materials.
Number
Human cells have 46 chromosomes
or 23 pairs (one member of each pair is derived
from each parent).
22 pairs are autosomes and 1 pair of sex
hromosomes.
XX - a female , XY - a male.
Chromosome analysis
This is done:
(1) to count the number of
chromosome present
in the human cell
(2) To analyze the banding
pattern of each
individual chromosome
(3) To identify the
structural
abnormalities of
chromosome if
present.
Preparation of Chromosome
Type of tissue:
Any tissue with living nucleated cells
which
can undergo division can be used for
chromosomal study.
1. Circulating lymphocytes ( peripheral
blood)
2. Skin
3. Bone marrow
4. Chorionic villi
5. Amniocytes from amniotic fluid.
Procedure
1.
2.
3.
4.
The cells are then cultures at 37`C under sterile condition for 3
days.
5.
On the 4th day colchicine is added to the culture to stop the cells
from dividing. At this metaphase stage the chromosomes are
maximally condensed and most easily visible.
6.
Centrifuge again; pour off the supernatant fluid and hypotonic
solution is added to the white cell suspension.
7.
8.
Study of chromosome
1. Sex chromatin study
for sex chromosomal anomalies.
Buccal smear is used & stained.
Small dark staining body at the periphery
of
the nucleus is present in 40 80 % of nuclei
is
known as X- chromatin or Barr body.
It represents the inactive X chromosome.
No. of X chromatin is one less than the No. of
X
chromosomes (n 1).
Chromosomal abnormalities
1. Numerical abnormalities
2. Structural abnormalities.
Structural Abnormalities
1. Inversion
A region of a chromosome becomes
inverted so that some of the genes come to lie
in the reverse of the original order.
Although the same genetic material
will be present, the expression of the genes
may be affected by their position.
There is no genetic material loss.
2. Deletion
It is loss of any part of a chromosome.
(1) Interstitial deletion a part of chromosome
between 2 breaks is deleted or lost.
A B C D E F - G H I (Between 2 breaks)
A BCDHI
Lost E F - G
Terminal deletion
A BCDEFGHI
A BCDEF
Deleted fragment G H - I
Deletion results in gene loss.
Ring chromosome
Sometimes in deletion with 2 breaks
involving
the centromere; the 2 sticky ends may
reunite as a
ring.
B
AB CDEF C
D
lost gene A E - F
3. Duplication
The same sequence of genes appear
twice in
the same homologous chromosome.
ABCDEFGHI
ABCDEFGHI
ABCDEFDEFGHI
A B C G H I
Translocation
Transfer of chromosome between
heterologous chromosomes.
1. Reciprocal translocation
2. Robertsonian translocation
Isochromosomes
A perfectly metacentric
chromosome
with 2 completely homologous arms
united at
the centromere.
Instead of splitting lengthwise; the
chromosome splits between the p &
q
arms.
Thereby, the new chromosomes will
have either 2 p arms or 2 q arms.
Non-dysjunction
Translocation
Mosiacism
Occurance:
1/600 live births
Recurrance:
1/1200
Downs Syndrome
Features:
1.Hypotonia; sleepy
2.Cranio-facial Brachycephaly; epicanthic
fold; small ears,
protrusion of tongue;
upward sloping
palpebrae fissure
3.Cardiac ASD, VSD,
PDA
4.Limbs Single palmar
crease, small middle
phalanx of 5th finger;
wide gap between 1st &
2nd toes.
Trisomy 13 (47 +
13) or Pataus
syndrome
Cause:
1. Non-dysjunction
2. Translocation
3. Mosiacism
Occurance: 1/5000
live births
Features:
Micropthalmia,
cleft lip &
palate; low set
Edwards syndrome
(47 + 18) or
Trisomy 18
Cause: Mainly nondysjunction
Mosiacism
Occurrence : 1/5000
live
births
Features:
1. Dolichocephaly
2. Low set ears
3. Micrognathia
4. Overlapping finger
5. Mental retardation
1.Turners syndrome
45 X0
Cause: nondysjunction
mosiacism
Occurrence : 1/5000
births young
mothers
Features:
2.Primary amenorrhoea
3.Infantilism of external
genitalia
4.Webbing of the neck
5.Short stature
Features:
-Primary amenorrhoea
-Infantilism of external
genitalia
-Webbing of the neck
-Short stature
-Normal intelligence
Turners Syndrome
2. Klinefelters syndrome
47 XXY
Cause: Non-dysjunction
Mosiacism
Occurrence: 1/1000 births
elderly mothers
Features:
1.Sterile; small testes
2.Gynaecomastia
3.Mental retardation
(sometimes present)
Kleinfelters syndrome
(or Klinefleters)
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