母体血浆中胎儿DNA分析在性连锁遗传病产前诊断中的应用  

Fetal gender determination for screening of sex-linked inherited diseases by real-time PCR analysis of DNA in maternal plasma

作　　者：易萍[1] 李力[1] 夏季[2] 俞丽丽[1] 陈伟[2] 陈竹钦[1] 

机构地区：[1]第三军医大学大坪医院野战外科研究所妇产科,重庆400042 [2]第三军医大学大坪医院野战外科研究所检验科,重庆400042

出　　处：《第三军医大学学报》2007年第6期538-540,共3页Journal of Third Military Medical University

基　　金：重庆市人口与计划生育委员会基金(2005002);第三军医大学科研基金(2005)~~

摘　　要：目的建立一种准确、快速、简便的无创性胎儿性别鉴定技术。方法应用实时定量PCR技术(Taqman探针法)检测35例孕妇血浆中胎儿DNA的Y染色体特异序列SRY基因,每例血浆样本DNA均用3个PCR管同时进行检测。结果利用母体血浆中SRY基因定量PCR分析的灵敏度为94.7%,特异性为100%。结论母亲血浆DNA中SRY基因定量检测是一种高度敏感性和比较可靠的胎儿性别鉴定技术,为性连锁遗传病提供一种无创性产前诊断方法。Objective To develop an accurate, rapid and simple method to determine fetal sex by analyzing DNA from maternal plasma. Methods Real-time PCR assay was used to detect Y chromosome specific sequences （SRY） in plasma DNA of 35 pregnant women admitted to our hospital from Nov 2004 to Mar 2005. Real-time PCR was performed in triplicate. Results Sensitivity of SRY by real-time PCR was 94.7%, and specificity was 100%. Conclusion Detection of fetal DNA from maternal plasma is a sensitive and reliable technique in non-invasive prenatal diagnosis of sex-linked inherited diseases.

关 键 词：血浆DNA 产前诊断 实时定量PCR 

分 类 号：R446.11[医药卫生—诊断学] R714.52[医药卫生—临床医学]