应用STR-荧光定量PCR行产前唐氏综合征诊断的初步研究  

A study of QF-PCR for diagnosis of Down's syndrome based on STR

作　　者：张静[1] 霍满鹏[1] 慕明涛[1] 刘俊俊[1] 赵君梅 

机构地区：[1]延安大学医学院,陕西延安716000 [2]陕西延安中学,陕西延安716000

出　　处：《中国优生与遗传杂志》2013年第12期39-40,11,共3页Chinese Journal of Birth Health & Heredity

基　　金：延安市科学技术研究发展计划项目编号:2011ks-21;陕西省教育厅大学生创新创业训练计划项目编号:1258

摘　　要：目的建立快速高效的产前诊断唐氏综合征的方法。方法选取21号染色体上唐氏综合征关键区域内的4个串联重复序列(STR)(D21S1413,D21S1414,D21S1446,D21S1437)作为遗传标记,采用荧光定量PCR扩增技术(QFPCR)及片段分析技术来检测178例羊水标本,并与羊水标本的染色体核型分析结果相比对,评价QF-PCR方法的特异性和灵敏度。结果所有178例羊水标本中经核型分析证实有19例为21三体,另有2例为性染色体数目异常,19例唐氏综合征样本均可由QF-PCR法扩增检出。19例唐氏综合症样本,采用4对STR引物同时检测,阳性诊断率达100%。结论基于STR的QF-PCR技术具有简单、快速及准确等优点,对唐氏综合征大规模的产前基因诊断具有很好的临床价值。Objective： To establish a method for rapid and effect detection of the Down＇s syndrome. Methods： Choosing 4 certain STRs （ D21 S1413, 1921 S 1414, D21 S1446, I）21S 1437 ） which locate in the Down＇s syndrome critical region as the genetic markers of chromosome 21, QF - PCR and cell karyotyping were performed to test the STR ploidies of 178 amniotic fluid samples. The sensitivity and specificity of QF - PCR were evaluated through comparing the results from cytogenetic analysis. Results ： For 250 amniotic fluid samples, 21 samples were presented abnormal including 19 21 -Trisomy and 2 X -Trisomy samples, furthermore, the 19 samples i- dentified Down＇s syndrome were tested positive by QF -PCR. In addition, the positive diagnosis rate for 19 samples with Down＇s syn- drome simultaneously tested by 4 primers was 100%. Conclusions ： QF - PCR was simple, fast and accurate for large - scale prenatal diagnosis of Down＇s syndrome based on STR.

关 键 词：STR QF—PCR 唐氏综合征 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]