bbc slide human cytogenetics

HUMAN
CYTOGENETICS
BBC1-K8

.

DR. KAMAJAYA,MSc,SpAnd.
DEPT. BIOLOGI FK-USU, MEDAN

HUMAN CHROMOSOMES
• 46 Chromosomes somatic ( 2n )
= 22 pair of Autosomes
+ XX Sex-chrom.

♀

+ XY Sex-chrom.  ♂
• 23 Chromosomes gametic ( n ).
= 22 Autosomes + X / Y Sex-chrom.

SEX-CHROMATIN.

A. Barr-body.

SEX-CHROMATIN.
b. Drumb-stick.

FLUORESCENT-BODY.

LYON-HYPOTHESIS.
1. Bila dlm sbh sel terdpt 2 / lbh kromosom-X,
→ Krom-X yg lebih → piknotik.
2. Kromosom piknotik → inaktif secara genetik
3. Kromosom-X inaktif → mencegah dosis berganda
4. Jumlah Sex-chromatin → P = (jlh krom-X) - 1.
5. Kromosom-X yg piknotik → random.
6. Pd anak sel, krom-X piknotik → klon.

Chromosome-analysis.
• A. Cell-samples.
1. Lymphocytes.
2. Bone-marrow cells.

3. Fibroblast.
4. Amniotic fibroblast.
5. Throphoblast.

Chromosome-analysis.
B. Lymphocyte culture.
1. Sampel : darah perifer.
2. Media : HAM F-10, TC-199, dll.
3. Stimulasi Mitosis : PHA, Concovalin-A.
4. Anti-kontaminasi bakteri dan jamur.
5. Kultur di inkubator suhu = 37oC,
95% CO2 & 5% O2.
6. Lama kultur ± 67 jam.

Chromosome analysis.
C. Harvest, preparation & staining.

- Washing → Buffer,
- Bulging
→ KCl 1%,

- Fixation.
2. Preparation.
3. Staining : a. Normal Giemsa,
b. Banding staining :
- Trypsin-Giemsa
banding.
- Fluorescent-banding.
1. Harvest :

NORMAL HUMAN CHROMOSOME
• The chromosome

Tipe-tipe kromosom manusia normal

p-arm
centromere

q-arm
1

2

3

1. Metacentric chromosome
2. Submetacentric chromosome
3. Acrocentric chromosome

Human Karyotype.

Human Karyogram.

Human Banding Chromosome.