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

作　　者：陈虹[1] 熊健[1] 杜晓娟[1] 张莉莉[1] 张小伟[1] 黄秉仁 

机构地区：[1]首都儿科研究所生化免疫室,北京医科大学,中国医学科学院基础医学研究所

出　　处：《中华医学遗传学杂志》1995年第1期26-29,T003,共5页Chinese Journal of Medical Genetics

基　　金：北京市自然科学基金

摘　　要：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.

关 键 词：SRY基因 性发育异常 核酸杂交 聚合酶链反应 

分 类 号：R726.97[医药卫生—儿科] R711.1[医药卫生—临床医学]