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.