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    Viany Rehansyah
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    Human chromosomes normally contain 46 total chromosomes, consisting of 22 pairs of autosomes and either two sex chromosomes of XX for females or XY for males. The Lyon hypothesis proposes that in cells with more than one X chromosome, one X chromosome becomes randomly inactivated and genetically inert. Chromosome analysis involves culturing cells like lymphocytes to induce cell division, then harvesting, preparing, and staining the cells to view the chromosomes and identify any abnormalities. A normal human karyotype contains 22 pairs of autosomes and either one X and one Y chromosome or two X chromosomes.

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    Human chromosomes normally contain 46 total chromosomes, consisting of 22 pairs of autosomes and either two sex chromosomes of XX for females or XY for males. The Lyon hypothesis proposes that in cells with more than one X chromosome, one X chromosome becomes randomly inactivated and genetically inert. Chromosome analysis involves culturing cells like lymphocytes to induce cell division, then harvesting, preparing, and staining the cells to view the chromosomes and identify any abnormalities. A normal human karyotype contains 22 pairs of autosomes and either one X and one Y chromosome or two X chromosomes.

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    19 views14 pages

    Human Cytogenetics

    Uploaded by

    Viany Rehansyah
    Human chromosomes normally contain 46 total chromosomes, consisting of 22 pairs of autosomes and either two sex chromosomes of XX for females or XY for males. The Lyon hypothesis proposes that in cells with more than one X chromosome, one X chromosome becomes randomly inactivated and genetically inert. Chromosome analysis involves culturing cells like lymphocytes to induce cell division, then harvesting, preparing, and staining the cells to view the chromosomes and identify any abnormalities. A normal human karyotype contains 22 pairs of autosomes and either one X and one Y chromosome or two X chromosomes.

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    of 14

    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.
    1. Harvest : - Washing → Buffer,
    - Bulging → KCl 1%,
    - Fixation.
    2. Preparation.
    3. Staining : a. Normal Giemsa,
    b. Banding staining :
    - Trypsin-Giemsa
    banding.
    - Fluorescent-banding.
    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.

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