Use of Y-chromosome-specific DNA probes to evaluate an 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.
Farah
S B
SB
Departamento de Genética Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, SP, Brasil.
Garmes
H M
HM
Cavalcanti
D P
DP
Mello
M P
MP
Porrelli
R N
RN
Ramos
C F
CF
Sartorato
E L
EL
D000293:Adolescent; D015139:Blotting, Southern; D015342:DNA Probes; D006801:Humans; D007621:Karyotyping; D008297:Male; D009693:Nucleic Acid Hybridization; D012729:Sex Chromosome Aberrations; D012733:Sex Differentiation; D014998:Y Chromosome / Q000502:physiology*
D015342:DNA Probes