荧光PCR快速诊断21-三体综合征的研究  

Rapid molecular diagnosis on 21 trisomy syndrome by fluorescent PCR

作　　者：田娟[1] 张元珍[2] 郑芳[1] 宋贵波[1] 

机构地区：[1]武汉大学中南医院基因诊断中心,430071 [2]武汉大学中南医院基因诊断中心妇产科,430071

出　　处：《中华临床医师杂志（电子版）》2011年第13期3741-3745,共5页Chinese Journal of Clinicians(Electronic Edition)

基　　金：武汉市科技局科技攻关项目(200760423158);湖北省计生委重点项目(唐氏综合征和神经管缺陷的产前筛查和诊断技术应用研究)

摘　　要：目的探讨用D21S1919、D21S263、D21S1914、D21S1255等4个杂合度较高的STR位点的荧光PCR诊断21-三体综合征的可行性。方法用荧光PCR扩增4个STR位点的DNA片段,分别检测了100例正常对照和6例患者,并将结果与传统的细胞遗传学方法进行对比,以验证该方法的有效性。结果在正常对照杂合子样本中,两个等位基因的峰高比值接近于1:1;在21-三体患者杂合子样本中,等位基因的峰高比值接近于2:1或1:1:1。结论荧光PCR是一种快速、准确的检测方法,而且只需要极少量的模板原料。这种方法可以用于21-三体综合征的无创、快速分子诊断。Objective To explore the clinical feasibility of fluorescent PCR method on the detection of 21 trisomy syndrome by D21S1919,D21S263,D21S1914,D21S1255 locus and make a foundation for rapid diagnosis of 21 trisomy syndrome.Methods About 100 normal controls and 6 patients with 21 trisomy syndrome were tested using fluorescent PCR by amplification of DNA fragments on the four loci.The results were compared with conventional cytogenetic analysis to confirm the utility of this method.Results In normal controls,the fluorescent intensity ratios of peak heights of PCR products amplified from two alleles were about 1:1 in heterozygous controls;however,the intensity ratios were about 2:1 or 1:1:1 in the patients.Conclusions Fluorescent PCR was a accurate,rapid method,and only small amount of starting material was needed,it could be applied in rapid prenatal diagnosis of 21 trisomy syndrome.

关 键 词：唐氏综合征 聚合酶链反应 产前诊断 分子诊断技术 

分 类 号：R714.5[医药卫生—妇产科学]