Human Genetics

, Volume 97, Issue 6, pp 819–823 | Cite as

The effect of Y-chromosome alpha-satellite array length on the rate of sex chromosome disomy in human sperm

  • Michael A. Abruzzo
  • Darren K. Griffin
  • Elise A. Millie
  • Leon A. Sheean
  • Terry J. Hassold
Original Investigation

Abstract

Trisomy is the leading known cause of mental retardation and pregnancy loss in humans, yet virtually nothing is known of the underlying nondisjunctional mechanisms. Since studies of other organisms suggest an association between centromere size or sequence and meiotic nondisjunction, we recently initiated studies to examine the effect of centromere size variation on human nondisjunction. In the present report, we summarize studies correlating variation in the size of the Y-chromosome centromere with sex chromosome nondisjunction. In one set of studies, we used pulsed-field gel electrophoresis to estimate Y-chromosome alpha-satellite array lengths in normal males, and correlated these values with Y-chromosome sperm disomy levels as determined by fluorescence in situ hybridization. In a second set of studies, we determined the Y-chromosome alpha-satellite array length of 47,XYY males, since the karyotypes of these individuals are a consequence of Y chromosome nondisjunction. Neither set of studies provided evidence for an effect of Y-chromosome alpha-satellite array length on Y-chromosome nondisjunction. Thus, if there is an association between Y-chromosome centromere size and nondisjunction, the effect is subtle and below the detection levels of the present study or involves extreme size variants that were not represented in the present study population.

Keywords

Mental Retardation Size Variant Detection Level Present Report Pregnancy Loss 

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Copyright information

© Springer-Verlag 1996

Authors and Affiliations

  • Michael A. Abruzzo
    • 1
  • Darren K. Griffin
    • 1
  • Elise A. Millie
    • 1
  • Leon A. Sheean
    • 2
  • Terry J. Hassold
    • 1
  1. 1.Department of Genetics and the Center for Human GeneticsCase Western Reserve University School of Medicine and the University Hospitals of ClevelandClevelandUSA
  2. 2.Department of Reproductive BiologyCase Western Reserve University School of MedicineClevelandUSA

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