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Human Genetics: When Things Go Awry!

Human Genetics: When Things Go Awry!. Nondisjunction Karyotyping Chromosomal Mutations. Meiosis I and II. Normal Human Karyotype. Normal Male Karyotype. Karyotype. An orderly display of magnified images of an individual’s chromosome

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Human Genetics: When Things Go Awry!

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  1. Human Genetics: When Things Go Awry! Nondisjunction Karyotyping Chromosomal Mutations

  2. Meiosis I and II

  3. Normal Human Karyotype

  4. Normal Male Karyotype

  5. Karyotype • An orderly display of magnified images of an individual’s chromosome • Appear in metaphase: thick and doubled (with their sister) • See procedure for making karyotype from blood sample (in textbook or in handout)

  6. Nondisjunction • An accident of meiosis (or mitosis) in which a pair of homologous chromosomes or a pair of sister chromatids fail to separate at anaphase • May result in an abnormal chromosome number in either sex • May result in abnormal number of autosomal chromosomes • May result in abnormal number of sex chromosomes

  7. Nondisjunction in Meiosis I

  8. Nondisjunction in Meiosis I vs. II

  9. Autosomal Karyotype

  10. Abnormal Number of Sex Chromosomes

  11. Klinefelter’s syndrome or XXY syndrome

  12. Turner’s syndrome (Monosomy X)

  13. Trisomy 13

  14. Chromosomal Mutations • Changes in the number or structure of chromosomes • May change location of certain genes on chromosomes • May change the number of copies of genes • Include: • Deletions • Duplications • Inversions • Translocations • When would such events occur during meiosis?

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