Moderately repeated DNA sequences specific for the short arm of the human Y chromosome are present in XX males and reduced in copy number in an XY female

Publisher Website
Google Scholar
Abstract
Four DNA sequences specific for the Y chromosome were isolated from a recombinant phage library constructed from flow sorted human Y chromosomes. Two of these sequences were moderately repeated and assigned to the short arm of the Y chromosome by in situ hybridization. Both sequences were detected in five out of seven 46,XX males and were reduced in copy number in one out of two 46,XY gonadal dysgenesis patients tested. The findings suggest close proximity of these Y-specific moderately repeated DNA sequences to a testis determining locus.