6例性别异常患者的SRY基因分析

Analysis of SRY gen in 6 cases of gonadal dysgenesis patients

本文采用ＰＣＲ扩增、琼脂糖凝胶电泳方法，检测了６例性别异常患者的ＳＲＹ基因。结果表明，３例４６，ＸＹ女性患者中，１例ＳＲＹ基因阴性，２例呈阳性；１例如，ＸＸ男性，ＳＲＹ基因呈阳性；另２例两性畸形患者ＳＲＹ基因呈阳性。分析认为，４６，ＸＹ女性性反转，是由于ＳＲＹ基因丢失或突变所致；４６，ＸＸ男性性反转，是由于ＸＰ－ＹＰ易位引起；而两性畸形的发生则与ＳＲＹ以外的其它性别决定基因有关。

SRY genes were detected by polymerase chain reaction and electrophorosis analysis in six gonadal dysgenesis patients.The results showed it is negtive in one and they are positive in two of three 46,XY,female cases,one 46,XX male and two hermaphroditic patients are SRY positive.It is considered that 46,XY female sexreverse is due to deletion or mutation of SRY gene on Y chromosome and 46,XX male reverse is due to Xp-Yp translocation,Hermaphrodite may be related with other determining gene except SRY gene.