八例性发育异常患者的SRY基因检测

A STUDY ON THE DETECTION OF SRY GENE IN 8 CASES OF SEXUAL ABNORMALITY

采用多聚酶链式反应（ＰＣＲ）结合核酸杂交的方法对８例性发育异常患儿进行了ＳＲＹ基因检测，３例４６，ＸＸ男性患儿有２例显示基因组ＤＮＡ中含有ＳＲＹ基因，证实ＳＲＹ基因易位是导致患儿性发育异常的原因。４例４６，ＸＹ女性患儿ＳＲＹ基因均为阳性。探讨了ＳＲＹ基因检测对临床诊断的意义和应用的可能性。

The SRY gene in 8 cases of children with sexual abnormality was detected using PCR and hybridization.In 2 out of 3 cases of 46, XX males, the SRY gene was detected from genomic DNA,demonstrating that the translocation of the SRY gene was the cause of children with sexual abnormality.In all 4 cases of 46, XY females, the SRY gene was positive. The significance and possibility of using this method to detect the SRY gene in clinical diagnosis were discussed.