性发育异常患者SRY基因分析  

A Study on the SRY Gene in Cases of Sexual Abnormality

作　　者：胡晓峰[1] 虎宝先[2] 朱宝生 李春华 肖燕忠 濮德敏[4] 刘希贤 

机构地区：[1]同济医科大学基础医学院医学遗传学研究室,武汉430030 [2]同济医科大学附属协和医院妇产科,武汉430022 [3]云南省人民医院妇产科,昆明650032 [4]同济医科大学附属同济医院妇产科,武汉430030

出　　处：《同济医科大学学报》2000年第1期11-13,共3页Acta Universitatis Medicinae Tongji

基　　金：湖北省科委自然科学基金!(No.98J100)

摘　　要：应用ＳＲＹ基因编码区１对特异寡核苷酸引物进行基因组ＤＮＡ扩增，结合单链构象多态性分析，银染显色，探讨性别决定基因（ｓｅｘ－ｄｅｔｅｒｍｉｎｉｎｇ ｒｅｇｉｏｎ ｏｎ Ｙ， ＳＲＹ）对性发育异常患者临床诊断的意义。结果：５例患者中，２例４６，ＸＸ男性显示与男性相同的特异扩增带；３例４６，ＸＹ女性中２例无男性特异扩增带，１例显示ＳＲＹ基因片段扩增，经单链构象多态性分析，显示与正常男性扩增片段相同的单链泳动带型。支持ＳＲＹ基因是男性性别决定的关键基因的假说，提示ＳＲＹ基因的调节基因等可能参与协同作用。To investigate the clinical implication of the sex determining region on Y (SRY) gene in the diagnosis of sexual abnomality, amplification of SRY sequences of 5 cases of sexual abnormality was carried out by using polymerase chain reaction followed by single strand conformation polymorphism analysis. The result revealed that among the 5 cases, two 46,XX males showed a SRY -specific 300bp band as normal male control. Among the 3 46,XY females, 2 had no male specific band, one showed a 300bp band, which displayed a normal single strand mobility by PCR-SSCP. The results further supported the hypothesis that SRY gene plays an important role in normal male sex differentiation, suggesting regulatory sequences of SRY or other genes are probably involved in the genetic mechanisms of sex determination and differentiation.

关 键 词：性腺发育障碍症 性染色体异常 性别决定基因 

分 类 号：R588[医药卫生—内分泌] R711.1[医药卫生—内科学]