Mapping the testis determinants by an analysis of Y-specific sequences in males with apparent XX and XO karyotypes and females with XY karyotypes

Nucleic Acids Res. 1987 Sep 25;15(18):7325-42. doi: 10.1093/nar/15.18.7325.

Abstract

A number of patients with paradoxical sex chromosome complements (so-called XY females, XX and XO males) have been investigated with a series of 19 Yp and 4 Yq DNA probes to establish which region of the Y is essential for male sexual differentiation. Of the 23 XX males, 18 possessed one or more Yp probe sequences with only 5 lacking such sequences. Of 9 XY females examined, only one showed evidence of a deletion in Yp occurring either as a result of X-Y interchange or interstitial deletion. This suggests that the majority of XY females are not commonly deleted for those Y sequences which are found to be transferred to the X in XX males. The DNA of two XO males both contained different portions of the Y. From a comparison of the patterns of Yp sequences in these patients, it has been possible to elaborate a model of Yp in terms of the order of probe sequences and to suggest a location for the testis determining region in distal Yp.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Deletion
  • Chromosome Mapping
  • Disorders of Sex Development / genetics*
  • Female
  • Humans
  • Male
  • Sex Chromosome Aberrations / genetics*
  • Testis / embryology*
  • Y Chromosome* / ultrastructure