The investigation of the relationship between the phenotypes of 46, XX males and the SRY gene.
- Author:
Yue-ping WANG
1
;
Yun-jing ZHAO
;
Qiang RUAN
;
Yao-hua JI
;
Ming-ge HAO
;
Wei-hua JIANG
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Child, Preschool; Genes, sry; genetics; Genitalia, Male; pathology; Humans; Infant; Male; Phenotype; Polymerase Chain Reaction; Sequence Analysis, DNA; Sex Chromosome Aberrations; Sex Chromosome Disorders; genetics; pathology
- From: Chinese Journal of Medical Genetics 2009;26(1):95-97
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the relationship between the phenotypes in XX male patients and the sex determining region(SRY) gene.
METHODSMultiple polymerase chain reactions were carried out in 6 male patients with karyotype of 46, XX, and then the PCR products were sequenced directly.
RESULTSThree 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.
CONCLUSIONThe SRY gene is key in sex determination and development, yet there might be other important genes involved.
