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.
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 six [corrected] 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.
D002458:Cell Fractionation / Q000379:methods; D002874:Chromosome Mapping; D005434:Flow Cytometry; D006059:Gonadal Dysgenesis; D006801:Humans; D009693:Nucleic Acid Hybridization; D012091:Repetitive Sequences, Nucleic Acid; D012732:Sex Determination Analysis; D014960:X Chromosome; D014998:Y Chromosome