荧光定量PCR产前快速诊断唐氏综合征可行性研究

目的建立快速高效的产前诊断唐氏综合征的分子生物学方法。方法分别在21号染色体上选取7个微卫星重复序列(SmallTandemRepeat,STR)(D21S1433,D21S1442,D21S1444,D21S1411,D21S1412,D21S1413,D21S1414)作为遗传标记,利用荧光定量PCR(QF-PCR)扩增技术及片段分析技术,对250例羊水标本进行检测,并与羊水标本染色体核型分析结果进行对比。结果250例羊水标本中,核型分析发现24例21三体,2例性染色体数目异常,24例唐氏综合征样本采用QF-PCR全部检出。224例正常羊水标本中,QF-PCR检出阴性标本223例,1例样本呈假阳性,假阳性率为0.4%,24例21三体标本中,七对引物同时检测诊断阳性率为100%。所有试验结果均在24h内得出。结论QF-PCR作为一种快速、准确、高效的分子生物学方法,对诊断唐氏综合征具有重要意义。

Study of Rapid prenatal diagnosis of Down syndrome with quantitative fluorescence-PCR

Objectives:To establish a rapid and efficient molecule technology for prenatal diagnosis of Down's syndrome.Methods:Seven Small Tandem Repeat sequence were selected which were located separately in short and long arm of chromosome 21(D21S1433,D21S1442,D21S1444,D21S1411,D21S1412,D21S1413,D21S1414).250 amniotic fluid samples were tested with Quantitative fluorescence-PCR(QF-PCR) and cell karyotyping.Results:Among all the 250 amniotic fluid samples,26 samples were tested abnormal including twenty four 21 Trisomy and two X Trisomy samples.All the 24 samples which were identified Down syndrome were tested positive by QF-PCR.While 1 sample showed trisomy in 224 normal samples which were suspected to be contaminated with maternal blood.Total false positive rate is 0.4%.Every result was achieved in 24 hours.Conclusions:Rapid prenatal diagnosis of Down syndrome using QF-PCR is a reliable technique which aids clinical management of pregnancy.