Analysis of SRY gene in 8 cases of sex abnormality.
- Author:
Hui WANG
1
;
Yun TENG
;
Hong TIAN
;
Yanping TANG
;
Yan CHEN
;
Zhenrong YANG
Author Information
1. Department of Genetics, School of Basic Medical Sciences, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.
- Publication Type:Case Reports
- MeSH:
Female;
Genes, sry;
genetics;
Gonadal Dysgenesis, 46,XX;
genetics;
Gonadal Dysgenesis, 46,XY;
genetics;
Humans;
Male;
Sex Chromosome Disorders;
genetics;
Sex-Determining Region Y Protein;
genetics
- From:
Journal of Huazhong University of Science and Technology (Medical Sciences)
2004;24(5):503-506
- CountryChina
- Language:English
-
Abstract:
In order to investigate the relationship between sex dysplasia and sex-determining region Y (SRY) gene, 8 patients with sexual abnormality were analyzed by cytogenetic and molecular genetic methods. Fluorescence in situ hybridization (FISH) using PY3.4, X alpha satellite, and SRY probes was performed in each case to analyze the sex chromosome translocation and gene translocation. SRY gene was amplified by polymerase chain reaction (PCR) and its mutation was detected by direct sequencing. The results showed that among 8 patients, 5 were positive for SRY and the remaining negative for SRY. In the patients positive for SRY genes, 3 presented testes and the left 2 streak ovaries. In the patients negative for SRY, only one case presented testes, while 2 ovaries. Direct sequencing demonstrated that all SRY genes were normal in the patients positive for SRY genes. FISH technique demonstrated that SRY genes translocated from Ypter to Xpter in 2 46,XX phenotypic males positive for SRY genes. It was concluded that SRY gene is strongly involved in male sex determination, while a sequence of other genes may be taken into account in sexual development.
