Use of y-chromosome-specific DNA probes to evaluate an XX male

ABSTRACT

The function of a Y human chromosomal DNA sequence was evaluated. The Y-5 probe was isolated from a flow-sorted chromosome library and detects Y-specific sequences. The Y-5 probe and other T-specific probes were used to analyze an XX male patient without ambiguous genitalia. DNA sequences from the short arm of the chromosome Y that were detected with pDP1007 and DP105 in the patient's genome explain the testis differentation observed in this case. Failure of the patient's DNA to hybridize to the Y-5 probe shows that the primitive gonads can differentiate into testes even in the absence of this chromosome region. In contrast, a gene controlling spermatogenesis may exist in this region because the patient azoospermic