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  • Human Cytogenetics: BBC1-K8

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    Dian Primadia Putri
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    1) A typical human cell contains 46 chromosomes, consisting of 22 pairs of autosomes and two sex chromosomes, either XX or XY. 2) Sex chromatin structures in the cell nucleus can indicate the presence of an X or Y chromosome. 3) The Lyon hypothesis explains X-chromosome inactivation in female cells. 4) Chromosome analysis involves culturing cells to prepare and stain chromosomes for identification and karyotyping.

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    1) A typical human cell contains 46 chromosomes, consisting of 22 pairs of autosomes and two sex chromosomes, either XX or XY. 2) Sex chromatin structures in the cell nucleus can indicate the presence of an X or Y chromosome. 3) The Lyon hypothesis explains X-chromosome inactivation in female cells. 4) Chromosome analysis involves culturing cells to prepare and stain chromosomes for identification and karyotyping.

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    58 views14 pages

    Human Cytogenetics: BBC1-K8

    Uploaded by

    Dian Primadia Putri
    1) A typical human cell contains 46 chromosomes, consisting of 22 pairs of autosomes and two sex chromosomes, either XX or XY. 2) Sex chromatin structures in the cell nucleus can indicate the presence of an X or Y chromosome. 3) The Lyon hypothesis explains X-chromosome inactivation in female cells. 4) Chromosome analysis involves culturing cells to prepare and stain chromosomes for identification and karyotyping.

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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.
    - 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
    p-arm centromere

    Tipe-tipe kromosom manusia normal

    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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