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Related Experiment Videos

Molecular cytogenetic diagnostics in sperm

K Mennicke1, P Diercks, H Schlieker

  • 1Department of Human Genetics, Medical University, Lübeck, Germany.

International Journal of Andrology
|January 1, 1997
PubMed
Summary

Chromosomal abnormalities are common in infertile males, with 4.3% of men studied showing aberrations. Molecular cytogenetics in sperm aids in risk assessment for assisted reproduction and genetic counseling.

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Area of Science:

  • Human Genetics
  • Reproductive Biology
  • Cytogenetics

Background:

  • Male infertility is a significant concern, with chromosomal abnormalities being a frequent contributing factor.
  • A higher prevalence of chromosomal aberrations exists in men with reduced sperm counts compared to the general population.

Purpose of the Study:

  • To investigate the frequency of chromosomal abnormalities in males with infertility.
  • To analyze sperm nuclei using molecular cytogenetics in affected individuals.
  • To assess the utility of sperm analysis in genetic counseling and assisted reproductive technologies.

Main Methods:

  • Studied 440 males with sperm counts below 20 x 10(6)/mL.
  • Utilized molecular cytogenetic methods, including fluorescence in-situ hybridization (FISH), on sperm nuclei.

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  • Identified specific chromosomal abnormalities such as aneuploidies, translocations (Robertsonian and reciprocal), and XYY karyotype.

    • Main Results:

    • Found chromosomal aberrations in 19 out of 440 males (4.3%), a significantly higher rate than in the normal population.
    • Analyzed sperm from seven men, identifying Robertsonian translocations, reciprocal translocations, and XYY males.
    • Confirmed specific chromosomal segregation patterns in translocation carriers and the elimination of the supernumerary Y chromosome in XYY males during meiosis.

    Conclusions:

    • Molecular cytogenetic analysis of sperm provides reliable risk assessment for chromosomally unbalanced sperm during intracytoplasmic sperm injection.
    • These findings are valuable for genetic counseling of infertile males with chromosomal abnormalities.
    • Sperm analysis aids in understanding segregation patterns and reproductive risks.