USE OF Y-CHROMOSOME-SPECIFIC DNA PROBES TO EVALUATE AN XX MALE

作者：FARAH SB^*; GARMES HM; C**ALCANTI DP; MELLO MP; PORRELLI RN; RAMOS CF; SARTORATO EL

来源：Brazilian Journal of Medical and Biological Research, 1991, 24(2): 149-156.

• Y-CHROMOSOME-SPECIFIC DNA PROBES
• SEX DETERMINATION
• XX MALE

1. 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.
2. The Y-5 probe and other Y-specific probes were used to analyze an XX male patient without ambiguous genitalia.
3. DNA sequences from the short arm of the chromosome Y that were detected with pDP1007 and pDP105 in the patient's genome explain the testis differentiation observed in this case.
4. 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 is azoospermic.

• 出版日期1991