应用STR-PCR方法快速诊断Down’s综合征

The application of STR-PCR typing technology to rapid prenatal diagnosis of Down syndrome

目的探讨应用PCR-STR分型技术快速产前诊断Down's综合征的方法。方法选择21号染色体上的4个多态位点D21S1435、D21S11、D21S1270、D211412进行PCR扩增,尿素聚丙烯酰胺凝胶电泳,银染分型,根据谱带的条数和浓度进行判断是否为21三体。结果应用此方法可以检出所有的由核型分析确诊的21三体,30例产前诊断筛出3例21三体患儿(有3条带图谱或2:1图谱)。结论该方法不用细胞培养,避免放射性标记,并可进行早期的产前诊断,该方法与传统的方法操作比较简单、速度快,是一种产前诊断和大规模筛查21三体的良好方法。

Objective To roseach the application of STR-PCR typing technology to rapid prenatal diagnosis of Down syndrome.Methods Amplify four specific sequence were chosed to chromosome 21 D21S1435,D21S11,D21S1270,D211412 by PCR.The amplified products were analyzed using the page eletrophoresis and silver staining to determine the 21 trisomy.Results In analyzed 30 cases of amniotic fluid samplings,three cases are DS(three bands for full heterozygous or two bands for hemi-heterozygous),the rest of 30 is normal.Conclusion This method need not call educates avoiding the radio marking and can proceed the prenatal diagnosis of the earlier period.The method is more simple and rapid than traditional method,It is a good method of prenatal and check with large-scale chromosome 21.