HUMAN
CYTOGENETICS
BBC1-K8.
DR. KAMAJAYA,MSc,SpAnd.
HUMAN CHROMOSOMES
•
46 Chromosomes somatic ( 2n )
= 22 pair of Autosomes
+ XX Sex-chrom.
♀
+ XY Sex-chrom.
♂
•
23 Chromosomes gametic ( n ).
SEX-CHROMATIN.
SEX-CHROMATIN.
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.
Chromosome-analysis.
•
A. Cell-samples.
1. Lymphocytes.
2. Bone-marrow cells.
3. Fibroblast.
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,
Chromosome analysis.
C. Harvest, preparation & staining.
1. Harvest : - Washing → Buffer, - Bulging → KCl 1%, - Fixation.
2. Preparation.
3. Staining : a. Normal Giemsa, b. Banding staining :
- Trypsin-Giemsa
• The chromosome
centromere p-arm
q-arm
NORMAL HUMAN CHROMOSOME
Tipe-tipe kromosom manusia normal
1 2 3
