应用多重PCR技术检测性器官异常患者的性别决定基因

采用针对人SRY基因及X与Y染色体同源序列的两对引物进行多重聚合酶链反应技术检测204例新生儿脐血DNA,男性均显示590bp、 355bp及280bp 3条扩增带,女性只有590bp1条扩增带,性别鉴定准确率为100%。又检测47例性器官异常患,13例社会性别为女性者只出现590bp扩增带,与核型性别结果一致。 34例社会性别为男性者中,有2例SRY基因检测结果阴性,只出现590bp带,核型为46,XX,证明这两例患者社会性别不相符,经病理证实后应诊断为女性假两性畸形。 Abstract:This investigation adapted multiplex PCR technique with two pairs of primer to determine sex according to the human SRY gene and X,Y chromosome analogical sequence.We detected bellybutton blood DNA from 204 newborns.Male revealed three bands:590bp,355bp and 280bp,and females only had one band which was 590bp,the accuracy of sex determination was 100%.47 sexual abnormal patients were tested.The results showed that 13 cases,whose social sex were female,had one 590bp band which consistent with their chromosome type sex.In the rest 34 cases,whose social sex were male,2cases showed,on the contrary,only one 590bp band and their chromosome type were 46,XX.This proved that the two patients did not consistent with their social sex,and pathological analysis showed that they were female pseud-hermaphroditism.