两性畸形患者性别决定基因研究  

Study on the sex-determining gene in the patient with hermaphrodifism.

作　　者：黄肖利[1] 梅端容[1] 伍严安[1] 黄建栋[1] 

机构地区：[1]福建医科大学省立临床学院检验科,350001

出　　处：《中国优生与遗传杂志》2009年第1期34-35,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的对5例两性畸形患者进行性别决定基因检测以探讨性别异常的原因。方法用聚合酶链反应(poiymerace chain reaction,PCR)的方法检测SRY基因。结果2例46,XY女性假两性畸形,SRY(+);2例46,XX男性假两性畸形,SRY(-);1例46,XY原发性闭经,外观女性,SRY(+)。结论两性畸形患者进行SRY基因检测对诊断及探讨其发病机制具有十分重要意义。Objective ： To investigate the reason of hermaphroditism, we detected the sex - determining region of the Y （SRY） gene of five patients of hermaphroditism. Methods ： Using poiymerace chain reaction （PCR） to detect SRY gene. Results ： Two female pseudo - hermaphroditism patients whose karyotypes were 46, XY and their SRY gene were positive ; There were also two male pseudo - hermaphroditism patients which had karyotypes of 46, XY and their SRY gene were negative. One patient of them was primary amenorrhea, whose appearance was female. However, her SRY gene was positive. Conclusion： It was very assitant to dectect SRY gene for diagnosis of hermaphroditism and studing the pathogenesy of hermaphroditism.

关 键 词：两性畸形 聚合酶链反应 SRY基因 

分 类 号：R711.1[医药卫生—妇产科学]