孕妇血浆胎儿DNA定量分析在产前性别诊断中的应用  

Quantitative analysis of fetal DNA in maternal plasma

作　　者：李晓红[1] 林正[2] 武学清[1] 庄广伦[2] 郭应禄[1] 

机构地区：[1]北京大学第一医院生殖与遗传中心,北京市100034 [2]中山医科大学第一医院

出　　处：《中国全科医学》2003年第9期720-722,共3页Chinese General Practice

基　　金：国家"973"重大基金(批准号:001cb51010201);国家自然科学基金(批准号:30000875及30170394);北京大学"985"基金

摘　　要：目的 探索一种早期、快速、非创伤性的围生期胎儿性别的诊断方法。方法 应用即时定量TagMan探针DNA扩增技术,检测61例妊娠8～39周的正常孕妇游离在血浆内的无细胞胎儿DNA的SRY基因,并有针对性的对部分孕妇检测妊娠过程中及产后母体血浆中代表母体与胎儿DNA总和的β-珠蛋白基因和代表胎儿DNA的SRY基因的变化关系。结果 妊娠第8周可在母体外周血浆中检测出胎儿游离DNA,其数量随妊娠时间增加而增高;30例孕妇血浆中游离DNA检则SRY基因阳性,经证实均为男性胎儿,31例SRY基因阴性,经证实均为女性胎儿,符合率为100％,分娩6个月后,SRY基因基本从母体血浆中消失。结论 即时定量TagMan探针DNA扩增技术,检测游离在孕妇血浆内的无细胞胎儿DNA,能早期鉴别胎儿性别,为早期诊断某些选择性遗传性疾病开拓了一条新的途径。Objective Application of fetal DNA in maternal plasma for noninvasive prenatal diagnosis by FQ - PCR method. Methods Fluorescence quantitative PCR ( FQ-PCR) , which combines PCR and fluorescence probe hybridization, was used to measure DNA of fetal in maternal plasma in 8 ~ 39 weeks pregnancy. Results DNA of fetal in maternal plasma in 61 patients that did amplify with FQ - PCR, 30 were positive for the testis - determining gene ( SRY) and the ' female ' fetal were diagnosed; 31 were negative for the SRY gene and the ' male' fetal were diagnosed. Extinction of fetal DNA in maternal plasma after childbirth 6 months. Conclusion FQ - PCR proves to be a sensitive, convinient, reliable and accurate technique for fetal gender determination in early pregnancy through quantitative analysis of fetal DNA in maternal plasma.

关 键 词：孕妇 血浆 胎儿 DNA 定量分析 产前诊断 临床应用 聚合酶链反应 性别鉴定 

分 类 号：R714.52[医药卫生—妇产科学]