The parental origin of X chromosomes in XX males determined using restriction fragment length polymorphisms

Am J Hum Genet. 1984 May;36(3):565-75.

Abstract

The inheritance of several X-linked restriction fragment length polymorphisms ( RFLPs ) is examined in seven 46,XX males and their immediate relatives. The XX males are shown to have inherited a paternal and a maternal RFLP allele in each of the five (of seven) families in which these X-linked markers are informative. In the other two families, a maternal X-chromosomal contribution is demonstrated, but a paternal contribution cannot be determined. We conclude that most, if not all, XX males inherit one paternal and one maternal X chromosome. A segment of single-copy DNA specific to the short arm of the Y chromosome is found to be absent from the genomes of eight XX males. In one of these XX males, an Xp-Yp translocation had previously been inferred from chromosome-banding studies. Our findings argue against mosaicism involving a Y-containing cell line in the XX males examined here, but they do not exclude an X-Y (or Y-autosome) translocation during paternal meiosis. If such a translocation has occurred, the translocation product received by the XX males does not include the Yp-specific sequence tested here.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • DNA / genetics*
  • DNA Restriction Enzymes / pharmacology*
  • Female
  • Fibroblasts / ultrastructure
  • Humans
  • Klinefelter Syndrome / genetics*
  • Leukocytes / ultrastructure
  • Male
  • Meiosis
  • Mosaicism
  • Nucleic Acid Hybridization*
  • Pedigree
  • Polymorphism, Genetic*
  • Translocation, Genetic
  • X Chromosome / analysis*
  • Y Chromosome / analysis

Substances

  • DNA
  • DNA Restriction Enzymes