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LEARNING OBJECTIVES

At the end of lecture the student should be able to


Discuss in detail the process of meiosis
Describe in brief the genetic disorders

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

First meiotic divisions


1.Prophase is divided into
1.a.Leptotene- the chromosomes
become visible,
but the chromatids are
not distinguished
1.b.Zygotene -the two homologus
chromosomes
of each of 23 pairs, come
to lie
parallel to each other and
are
closely apposed.(Synapsis or

1.c. Pachytene -the two chromitids of


each chromosome become distinct. Each
chromosome pair has four chromitids and
is called a tetrad. The tetrad contains 2
central chromatids and 2 peripheral
chromatids. The two central chromatids
coil over each other and adhere. The
points of adherence are called
(crossing over)
1.d.Diplotene-The two chromosomes of a
pair separate. The chromatids involved in
crossing over break at the points of
crossing. For the exchange of genetic
material between the chromatids.

Metaphase the chromosomes align at the


equator with spindle formation as in mitosis
Anaphase - there is no splitting of
centromeres. One entire chromosome of each
pair moves to each pole of the spindle. The
resulting daughter cells have 23
chromosomes, each made up of two
chromatids.
(Randomly assorted and allocated to the
daughter cell)
Telophase -is similar to mitosis

Second meiotic division


the first meiotic division is followed
by a short interphase.
There is no duplication of DNA.
The second meiotic division is similar
to mitosis

As a result of meiotic divisions:


Genetic variability is enhanced through
Crossover, which redistributes genetic
material
Random distribution of homologous
chromosomes
to the daughter cells
Each germ cell contains a haploid number
of chromosomes, so that at fertilization the
diploid number of 46 is restored.
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DIFFERENCE
MITOSIS

MEIOSIS

One division

Two divisions

Two daughter cells

Four daughter cells

Daughter cells genetically


identical

Daughter cells genetically


different

Chromosomes 2n

Chromosomes 1n

Occurs in somatic cells

Occurs in germline cells

Occurs throughout life

Relates to reproductive period

Applies for repair and


replacement of cells

Applies during sexual


reproduction

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.

Chromosomes of 23 pairs are


called
diploid number and half the number
is called
haploid number.
Members of a pair of
chromosome are known as
homologous.
A pair of different chromosomes
are known as heterologous.

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.

5 ml of peripheral venous blood is taken

2.

The RBCs are separated off; centrifuged and supernatant fluid is


poured off.

3.

The remaining suspension of WBCs are then added to a nutrient


media containing phytohaemagglutinin, which stimulates the T.
lymphophocytes to divide.

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.

After a time, the cells swell up separating the chromosomes


within it.
A drop of cells are then dropped onto the slide and stained with
Giemsa.

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).

Indications for chromosomal analysis


1. Dysmorphic feature suggestive of a
chromosomal syndrome.
2. Unexplained mental retardation
3. Family history of structural
chromosomal anomaly
4. Multiple congenital anomalies.
5. Unexplained stillbirths
6. Recurrent miscarriages (abortions)
7. Female with unexplained short stature
8. Primary infertility
9. Ambiguous sexual development
10.Certain types of cancer

Chromosomal abnormalities
1. Numerical abnormalities
2. Structural abnormalities.

This abnormalities may involve the sex


chromosomes or the autosomes.
Aneuploidy chromosome number that
is not the exact multiple of the haploid
n; i.e. gain or loss of 1 chromosome

Euploidy any chromosome number


that is the exact multiple of haploid
n
e.g. 2n, 3n, 4n
Polyploidy It is the number of

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.

(a) Paracentric Inversion Centrosome is not


involved
A B D C E F - G - H I
A BDCGFEHI
(b) Pericentric inversion centrosome is involved
A B C D E F G H I
A F E D C B G H - I

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

(2)Terminal deletion a part of the chromosome


distal to a break is lost

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.

Disorders of the Autosome


Downs syndrome or Trisomy 21 (47 +21)
Cause:

Non-dysjunction

Translocation

Mosiacism

Occurance:
1/600 live births
Recurrance:
1/1200

Downs Syndrome

Caused by non-disjunction of the 21st chromosome.


This means that the individual has a trisomy (3 2lst chromosomes).

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

Disorders of Sex Chromosomes


1. Turners syndrome
2. Klinefelters syndrome

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)

Disorder occurring due to non-disjunction of the X chromosome.


The Sperm containing both X and Y combines with an egg
containing the X, results in a male child.
The egg may contribute the extra X chromosome.

Thank You