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目的探索用STR-PCR方法进行唐氏综合征产前基因诊断的可行性。方法收集经羊水细胞培养、核型分析已确诊为唐氏综合征的孕妇羊水标本,提取其中的胎儿DNA,并利用聚合酶链反应扩增21号染色体上4个STR位点(D21S11、D21S1411、D21S2039、D21S2055),根据扩增产物聚丙烯酰胺凝胶电泳分型结果诊断唐氏综合征患者。结果与核型分析结果对比。结果运用STR-PCR电泳分型技术对10例唐氏综合征孕妇的羊水进行诊断,结果与染色体核型分析一致。结论联用4个位点对唐氏综合征标准型患者进行诊断结果准确度高,适宜产前诊断临床应用。
Objective To explore the feasibility of using STR-PCR to diagnose Down’s syndrome prenatal gene. Methods The amniotic fluid samples of pregnant women who had been diagnosed as Down’s syndrome by amniotic fluid cell culture were collected and the fetal DNA was extracted. The four STR loci on chromosome 21 (D21S11, D21S1411, D21S2039, D21S2055). According to the result of polyacrylamide gel electrophoresis, the patients with Down’s syndrome were diagnosed. Results and karyotype analysis results. Results The amniotic fluid of 10 pregnant women with Down Syndrome was diagnosed by STR-PCR electrophoresis and the results were consistent with the karyotype analysis. Conclusions The combined use of four loci has high diagnostic accuracy for patients with Down Syndrome standard type and is suitable for the clinical application of prenatal diagnosis.