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Nondisjunction and Aneuploidy Overview

Apr 16, 2025

Lecture Notes: Nondisjunction and Aneuploidy in Meiosis

Introduction to Nondisjunction

  • Nondisjunction: An error during meiotic division in germ cells.
    • Occurs when homologous chromosomes don't separate during meiosis I or sister chromatids don't separate during meiosis II.
    • Results in some cells with extra chromosomes and others missing chromosomes.

Understanding Aneuploidy

  • Aneuploidy: An abnormal number of chromosomes in a cell.
    • Occurs due to nondisjunction.
    • Examples include cells having additional or missing copies of chromosomes.

Hypothetical Example of Nondisjunction

  • Consider a diploid germ cell with 2 pairs of homologs (2n = 4).
  • Nondisjunction in Meiosis I:
    • During anaphase I, homologs typically separate.
    • Nondisjunction results in homologs moving to the same spindle pole.
    • Resulting cells have 3 chromosomes in one cell and 1 in the other.
  • Meiosis II and Gamete Formation:
    • Normal separation during anaphase II.
    • Resulting cells still vary in chromosome number (two with 3, two with 1).
    • Gametes thus vary (n + 1 or n - 1).

Impact on Fertilization and Zygote Formation

  • Fertilization involves fusion of gametes:
    • Trisomy (2n + 1): Resulting from n + 1 gamete fusing with a normal gamete.
    • Monosomy (2n - 1): Resulting from n - 1 gamete fusing with a normal gamete.
  • Trisomy Example: Down syndrome due to trisomy of chromosome 21.

Nondisjunction During Meiosis II

  • Assumes meiosis I occurs normally.
  • Nondisjunction in Meiosis II:
    • Occurs when sister chromatids don't separate.
    • Resulting cells: one with 3 chromosomes, one with 1, two with 2.
  • Gamete Variation and Fertilization:
    • Gametes: one n + 1, one n - 1, two n.
    • Fertilization outcomes vary in chromosome number.
    • Zygotes can be trisomic, monosomic, or diploid.

Conclusion

  • Nondisjunction can lead to aneuploid zygotes.
  • Many human cells resulting from nondisjunction are naturally eliminated but can survive, leading to genetic disorders.

Additional Notes

  • Aneuploid Conditions: Trisomic and monosomic zygotes are aneuploids.
  • Understanding nondisjunction is crucial in studying genetic conditions.

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