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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 berganda4. 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.
1. Harvest : - Washing → Buffer,- Bulging → KCl 1%,- Fixation.
2. Preparation.3. Staining : a. Normal Giemsa,
b. Banding staining :- Trypsin-Giemsa
banding.- Fluorescent-banding.
• The chromosome
centromere
p-arm
q-arm
NORMAL HUMAN CHROMOSOME
Tipe-tipe kromosom manusia normal
1 2 31. Metacentric chromosome
2. Submetacentric chromosome
3. Acrocentric chromosome
Human Karyotype.
Human Karyogram.
Human Banding Chromosome.