Localisation of Y chromosome sequences in normal and 'XX' males

Abstract

Three unique sequences derived from the Y chromosome have been mapped within the human genome. A Y specific sequence DYS20 is localised to Yq11.2. DXYS25 and DXYS27 are both X-Y homologous sequences which map to the Y short arm and to Xq21. DXYS25 maps more distally than DXYS27, on the Y short arm and on the X long arm. Y specific restriction fragments for these two sequences are shown to be present in the genome of two XX males, and an aberrant signal for DXYS25 is demonstrated at the tip of an X chromosome short arm in one XX male by in situ hybridisation. The implications of these findings for the location of the testis determining factor are discussed.