[The investigation of the relationship between the phenotypes of 46, XX males and the SRY gene].
OBJECTIVE
To investigate the relationship between the phenotypes in XX male patients and the sex determining region(SRY) gene.


METHODS
Multiple polymerase chain reactions were carried out in 6 male patients with karyotype of 46, XX, and then the PCR products were sequenced directly.


RESULTS
Three cases of male infertility were positive for the SRY gene without evident malformation in their extra genitalia, while 3 cases with testes were negative for the SRY gene, with evident malformation in their extra genitalia.


CONCLUSIONS
The SRY gene is key in sex determination and development, yet there might be other important genes involved.
Wang
Yue-ping
YP
Genetics Laboratory, the Affiliated Shengjing Hospital, China Medical University, Shenyang, Liaoning, 110004 PR China. wangyueping12@tom.com
Zhao
Yun-jing
YJ
Ruan
Qiang
Q
Ji
Yao-hua
YH
Hao
Ming-ge
MG
Jiang
Wei-hua
WH
D000328:Adult; D002675:Child, Preschool; D024282:Genes, sry / Q000235:genetics*; D005837:Genitalia, Male / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D012729:Sex Chromosome Aberrations; D025064:Sex Chromosome Disorders / Q000235:genetics* / Q000473:pathology