母体循环中游离胎儿DNA含量与唐氏综合征的关系研究  

Stady on Relationship of the Fetus Free DNA Comtent in Maternal Cycle and Down＇s Syndrome

作　　者：汤冬玲[1] 李栋[1] 邵华[1] 

机构地区：[1]武汉大学人民医院检验科,武汉430060

出　　处：《现代检验医学杂志》2011年第4期81-83,共3页Journal of Modern Laboratory Medicine

基　　金：基金项目：湖北省自然科学基金（2009CDB194）,湖北省卫生厅青年人才基金（QJX2010-15）,武汉大学自主科研项目302275184.

摘　　要：目的通过检测唐氏综合征（DS）孕妇血浆中的游离胎儿DNA（fDNA）含量，探讨实时荧光定量PCR技术用于产前诊断唐氏综合征的可行性。方法选择DS男胎孕妇6例、DS高危男胎孕妇31例、正常男胎孕妇32例，用QIAampDNABloodKit提取孕妇血浆中fDNA，并用实时荧光定量PCR（real—timefluorescencequantitativepolymerasechain-re—action，FQ—PCR）方法对孕妇血浆中胎儿DNA的含量进行检测并比较，以Y染色体上的SRY基因作为男性fDNA的标记物。结果DS孕妇组、DS高危孕妇组与正常孕妇组相比，孕妇血浆中DNA的含量拷贝数分别为140．82±50．47copies／ml，82．08±25．47copies／ml和56．34±15．52eopies／m1．组间两两比较，差异有统计学极显著性意义（t=2．815，P〈0．01）。结论孕妇血浆中游离fDNA定量检测可以作为产前筛查DS的候选靶标。Objective To isolate fetal DNA from maternal plasma and examine its fetal origin in Down＇s syndrome screening. Methods Fetal DNA in maternal plasma was isolated from 5 cases bearing male DS fetuses,21 DS high-risk pregnant women and 22 normal pregnant women respectively. Real-time fluorescence quantitative polymerase chain-reaction （FQ- PCR） was used to determine sex-determining region Y （SRY） gene on Y chromosome. Results The free fetal DNA of DS pregnant women group high risk pregnant women and normal pregnant women was 56. 34± 15.52 copies/ml, 82.08± 25.47 copies/ml and 140. 82 ±50. 47 copies/ml, respectively. Differences were observed among the three groups （t = 2.815,P〈0. 01）. Conclusion The high sensitivity of PCR-based detection,together with quantification provided by real- time DNA analysis,had clear potential for clinical application in non-invasive prenatal diagnosis.

关 键 词：产前诊断 实时荧光定量PCR 胎儿DNA 唐氏综合征 

分 类 号：R722.11[医药卫生—儿科] Q503[医药卫生—临床医学]