利用实时荧光定量PCR技术快速诊断唐氏综合征的研究  

Rapid diagnosis of Down's syndrome by real-time quantitative PCR

作　　者：黄仲军 朱健生[2] 尹耕心 国天义 翟勇[1] 汪竞成 徐东岚 杜华荣[1] 傅克勤 

机构地区：[1]安徽省计划生育科学技术研究所,合肥230031 [2]安徽省合肥市妇幼保健院

出　　处：《中国计划生育学杂志》2012年第5期346-348,共3页Chinese Journal of Family Planning

基　　金：安徽省科学技术厅2011年社会公益类科研机构专项资金

摘　　要：目的:建立实时荧光定量聚合酶链反应(RT-qPCR)技术,快速诊断唐氏综合征。方法:应用RT-qPCR方法同时扩增位于21号染色体上的唐氏综合征特异区域基因片段(DSCR3)和12号染色体上的磷酸甘油醛脱氢酶基因,根据相对定量指标ΔCT值区分唐氏综合征患者和正常人。结果:正常人组和唐氏综合征患者组ΔCT值差异有统计学意义(P<0.001),且无交叉重叠。结论:RT-qPCR技术快速诊断唐氏综合征方法可行,具有简单、快速、特异性高等特点。Objective： To establish a real-time quantitative PCR method for rapid diagnosis of Down syndrome （DS）. Methods： The fragments from DS critical region gene 3 （DSCR3） on chromosome 21 and the glyceraldehyde-3-phosphate dehydrogenase （GAPDH） gene on chromosome 12 were co-amplified by qPCR. The relative quantitative index ΔCT value was used to differentiate DS patient from healthy individual. Results： TheΔCT value from DS group was significantly different from that of normal control group （P〈0.001）, and no overlapping was observed. A real-time quantitative PCR method for rapid diagnosis of DS was preliminarily established. Conclusion： The real-time quantitative PCR method could be used to rapidly diagnose DS. It is simple, quick, and highly specific.

关 键 词：唐氏综合征 实时荧光定量聚合酶链反应 相对定量 快速诊断 

分 类 号：R440[医药卫生—诊断学]