摘要
性分化异常与Ｙ染色体有直接的联系，而睾丸的发生与Ｙ染色体短臂上１Ａ１Ａ性别决定区（ＳＲＹ）基因密切相关。本文对表型男性的４６，ＸＸ和表型女性的４６，ＸＹ、４５，Ｘ／４６，Ｘ，ｔ（Ｙ；Ｙ）、４６，ＸＹ，表型女性盆腔肿瘤、４６，ＸＹ，外生殖器官及性腺发育异常、Ｘ染色体与常染色体易位的原发闭经等六个类型１６例病人应用ＰＣＲ技术进行ＳＲＹ基因的体外扩增检测。结果１２例ＳＲＹ阳性，４例ＳＲＹ阴性，为临床诊断治疗提供了依据。
The study showed that sexual abnormal development concerned with Y chromosome directly, and the testis development was associated with sex determining region (SRY) gene in interval 1A1A of the Y chromosome. On the basis of cytogenetics karyotype analysis in six types of hermaphroditism including 46 ,XX male; 46, XY female; 45, X/46, X,t (Y; Y); 46, XY abdominal tumor; 46, XY extermal genitals and gonadal dysgenesis; fenale of X-autosomeal translocation. Result: SRY positive 12 cases; SRY negative 4 cases. We studied the SRY gene through polynerase chain reaction and provided the basis for clinical diagnosis.
关键词
性分化发育异常
聚合酶链反应
性别决定区
sexual abnormal development
polymerase chain reaction
sex determining region
