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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 rapid and efficient prenatal diagnosis of Down’s syndrome. Methods Four tandem repeats (STR) (D21S1413, D21S1414, D21S1446, D21S1437) in the key region of Down Syndrome on chromosome 21 were selected as genetic markers. Quantitative PCR and QFPCR 178 samples of amniotic fluid were detected and compared with the results of karyotype analysis of amniotic fluid samples to evaluate the specificity and sensitivity of QF-PCR. Results All 178 cases of amniotic fluid samples confirmed by karyotype analysis of 19 cases of trisomy 21, while the other two cases of abnormal sex chromosome number, 19 cases of Down Syndrome samples can be detected by QF-PCR amplification. 19 cases of Down Syndrome samples, using 4 pairs of STR primers simultaneously detected, the positive diagnosis rate of 100%. Conclusion The STR-based QF-PCR technique has the advantages of simple, rapid and accurate, and has a good clinical value for the large-scale prenatal diagnosis of Down Syndrome.