人类SRY基因用于产前诊断的初步研究  

The Human SRY Gene for Prenatal Diagnosis

作　　者：高英堂[1] 马梦兰[1] 刘敏 朱争艳[1] 张雪华[1] 

机构地区：[1]天津市第三中心医院分子生物学实验室

出　　处：《中华妇产科杂志》1997年第11期652-654,共3页Chinese Journal of Obstetrics and Gynecology

摘　　要：目的：建立一种对性连锁遗传病胎儿进行产前性别诊断的方法。方法：采用聚合酶链式反应（ＰＣＲ）扩增男性特异的ＳＲＹ基因，扩增片段大小为４２２ｂｐ。结果：对不同标本的扩增表明，１０例男性标本中均出现该特异扩增片段，而女性无此片段；２０例羊水标本的扩增结果与其新生儿实际性别完全一致；４７例绒毛标本中２２例阳性，阴性／阳性之比为１∶１．１３６，接近实际的胎儿性别之比。同时进行了全血和羊水的直接ＰＣＲ，在４μｌ至０．５μｌ血时可出现扩增带，羊水在２ｍｌ至０．５ｍｌ时也出现扩增带。结论：ＰＣＲ特异扩增ＳＲＹ基因片段。Objective: To establish the method for prenatal sex diagnosis of the fetus carrying sexlinked genetic disorder. Method: Human SRY gene was amplified by polymerase chain reaction. A 422 bp male specific fragment was obtained. Results: The fragment was identified in 10 men, but unidentified in 10 women. The diagnostic accordance rate of 20 amniotic fluid samples was 100%. 22 of 47 chorionic villi samples were positive. The rate of positive/negative (22/25) was nearly the sex rate of newborn babies. In the meantime, directPCR amplification of blood and amniotic fluid was completed. The fragment was shown from 4 μl to 0.5 μl of blood and from 2 ml to 0.5 ml of amniotic fluid. Conclusion: The results show that fetal sex determination by PCR will be suitable for clinical prenatal diagnosis of sexlinked genetic disorders.

关 键 词：SRY基因 胎儿 产前诊断 性连锁遗传病 

分 类 号：R714.55[医药卫生—妇产科学]