Human genetics when things go awry
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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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Human genetics when things go awry

Human Genetics: When Things Go Awry!

Nondisjunction

Karyotyping

Chromosomal Mutations


Meiosis i and ii

Meiosis I and II


Normal human karyotype

Normal Human Karyotype


Normal male karyotype

Normal Male Karyotype


Karyotype

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)


Nondisjunction

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


Nondisjunction in meiosis i

Nondisjunction in Meiosis I


Nondisjunction in meiosis i vs ii

Nondisjunction in Meiosis I vs. II


Autosomal karyotype

Autosomal Karyotype


Abnormal number of sex chromosomes

Abnormal Number of Sex Chromosomes


Klinefelter s syndrome or xxy syndrome

Klinefelter’s syndrome or XXY syndrome


Turner s syndrome monosomy x

Turner’s syndrome (Monosomy X)


Trisomy 13

Trisomy 13


Chromosomal mutations

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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