性分化异常患者SRY基因检测及病因分析  

SRY gene detection and etiological analysis of patients with sex differentiation abnormality

作　　者：贺蓉[1] 刘晓翌[1] 肖晓素[1] 王勇强[1] 胡飞雪[1] 

机构地区：[1]北京大学深圳医院检验科,广东深圳518036

出　　处：《国际医药卫生导报》2008年第16期5-8,共4页International Medicine and Health Guidance News

基　　金：深圳市科技局资助项目（编号：200602132）

摘　　要：目的探讨SRY基因在性别分化和发育中的作用。方法应用染色体核型分析和聚合酶链式反应（PCR）对人类性别决定区域（SRY）基因进行特异性扩增。结果在18例患者中有5例为46，XY，SRY（＋）睾丸女性化综合征患者；4例为46，XX女性性反转患者，其中3例为SRY（＋），1例SRY（-）；2例为46，XX，SRY（＋）两性畸形患者；2例为47，XXY克氏征；其他5例患者SRY基因与染色体性别一致，但都伴有不同程度的性发育异常。结论SRY基因的缺失或易位是导致性分化异常的最主要原因，同时性别决定和分化还有其他相关基因参与。Objective To investigate the effect of the SRY gene in sex differentiation and development. Methods The karyotype analysis technique of the cytogenetics combined with polymerase chain reaction （PCR） were used to detect the SRY gene of peripheral blood. Results Among the 18 cases in abnormal of sexual differentiation and development , 5 cases were the blood karyotyped as 46, XY, and SRY positive, which were Testicular Feminization Syndrome;4 case was karyotype of 46, XX, with 3 case SRY positive and l case SRY negtive ,which were sex reversal syndrome;2 cases ware 46, XX, SRY（＋）,which were true hermaphroditism. 2 cases ware 47, XXY, SRY（＋）,which were Klinefelter syndrome. 5 cases were normal karyotype with sex differentiation abnormality. Conclusion The deletion or translocation of SRY gene was the most important mechanism of the sex differentiation abnormality, while another genes play the roles in sex differentiation.

关 键 词：性分化异常 两性畸形 SRY基因 核型分析 聚合酶链式反应 

分 类 号：R6[医药卫生—外科学]