The Normal Human Karyotype

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Author:
minna528
ID:
21852
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The Normal Human Karyotype
Updated:
2010-06-02 23:55:39
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Cytogenetics
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Cytogenetics midterm
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  1. Karyotypes are prepared from _______ that are in ______
    Somatic cells

    metaphase
  2. Compensation for the extra unneeded X chromosome is accomplished by:
    X-inactivation
  3. The genes found on the Y chromosome:
    are responsible for secondary sex characteristics
  4. Karyotype
    Chromosomes arranged in pairs from largest, most metacentric to the smallest most acrocentric
  5. Metacentric
    centromere is in the middle of the chromosome
  6. Submetacentric
    One chromosome arm is longer than the other
  7. p=_______ arm
    short arm
  8. q=____arm
    long arm
  9. acrocentric
    • centromere is at one end
    • the short arm consists of heterochromatin and nucleolar organzing region
    • may be variable in size and staining patterns
  10. Primary constriction
    the centromere- typicalled associated satellite DNA ( alpha-satellite)
  11. Secondary constriction
    • Consists of highly repetitive sequences that are either inert or NOR (nuclear organizing region)
    • stain lighter
  12. Telomere
    • Functional DNA sequence TTAGGG
    • prevents chromosomes ends from sticking to each other
  13. Satellite
    a genetically inert piece of chromosome usually connected to the short arm of acrocentric chromosome via a secondary constriction , the NOR and highly repetitive DNA sequences
  14. Chromosome bands
    • Cross striation patterns on chromosomes due to various treatments
    • reflect underlying DNA sequences and chromosome structure
  15. Cultures from peripheral blood are obtained by transforming_______ from a resting stage to actively dividing cells using__________
    • T-lymphocytes
    • phytohemaglutinin
  16. phytohemaglutinin
    Brings t-lymphocytes to an actively dividing state
  17. a ____tonic solution is used swell the cells to aid chromosomes in sperading
    Hypotonic
  18. Fix is made of:
    it is used to:
    • Methanol and acetic acid
    • preserves nucleoprotein structure and clears cytoplasm
  19. Q banding
    • the first banding technique
    • uses a special fluorescent microscope
  20. G Banding
    produces banding patterns after gentle treatment with trypsin followed by staining with Giemsa
  21. C banding
    Stains heterochromatin around the centromeres of every chromosome and secondary constrictions of 1, 9 and 16
  22. NOR (silver staining)
    Stains nucleolar organizer regions on acrocentric human acrocentric chromosomes
  23. BrdU labeling
    Early or late DNA replication patterns when subsituted for thymidine in early or late S period

    When substituted for thymidine through two complete cell cycles produces differential staining of sister chromatids and reveals sister-chromatid exchanges (SCEs)
  24. R banding
    • Heat treatment
    • high salt concentration
    • Is the reverse pattern of G banding

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