Analysis of SRY Gene in 8 Cases of Sex Abnormality

作     者：王慧 滕云 田虹 陈燕 杨真荣 唐艳平 WANG Hui , TENG Yun , TIAN Hong , CHEN Yan, YANG Zhenrong , TANG Yanping Department of Genetics, School of Basic Medical Sciences, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China

作者机构：Department of Genetics School of Basic Medical Sciences Tongji Medical College Huazhong University of Science and Technology Wuhan 430030 China 

出 版 物：《Journal of Huazhong University of Science and Technology(Medical Sciences)》 (华中科技大学学报（医学英德文版）)

年 卷 期：2004年第24卷第5期

页      面：503-506页

核心收录：

学科分类：0710[理学-生物学] 07[理学] 071007[理学-遗传学] 

主　　题：sex determination sex-determining region gene fluorescence in situ hybridization 

摘      要：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.