MiniFiler及Yfiler试剂盒无创产前亲子鉴定的可能性探究

目的采用Mini Filer~(TM)及YFiler~(TM)试剂盒对孕妇血浆进行STR分型,评估上述试剂盒进行无创产前亲子鉴定的可行性。方法采用Mini Filer~(TM)及YFiler~(TM)试剂盒,对2例成人男性的全血及血浆进行STR分型,评估血浆检材的分型准确率及适用性;对8组已知亲子关系的孕妇家系(4组非父,4组亲父,均为男胎样本)采用Mini Filer~(TM)及YFiler~(TM)试剂盒进行STR分型,对STR分型图谱直接观察,总结归纳孕妇血浆STR图谱的特征,探讨进行无创产前亲子鉴定的可行性。结果血浆检材的STR分型结果与全血STR分型结果 100%一致,且等位基因峰高接近,表明血浆是一类可以进行STR分型的检材;观察8组孕妇血浆检材的STR分型图谱,可获得2~5个可用(含胎儿STR信息)Mini-STR位点,1~8个可用Y-STR位点,且在位点充足的情况下(6个),肯定父权家系可计算累计父权指数达192 653,否定父权家系中有3~7个位点支持否定父权。结论采用Mini Filer~(TM)及Yfiler~(TM)试剂盒对孕妇血浆进行STR分型,存在进行无创产前亲子鉴定的可能性。

Feasibility study of str typing based on next-generation sequencing

Objective Using MiniFilerTM and YFilerTM kit to perform STR typing in maternal plasma in order to assess the feasibility of non-invasive prenatal paternity testing. Methods MiniFilerTM and YFilerTM kit were used to perform STR typing in whole blood and plasma of 2 cases, assessing the genotyping accuracy and applicability of plasma samples; Eight groups of known paternity pregnant women family (4 groups are paternity exclusion, 4 group are paternity inclusion) used MiniFilerTM and YFilerTM kit to perform STR typing, summarized in maternal plasma STR map features to assess the feasibility of non-invasive prenatal paternity testing. Results STR genotyping results in plasma samples was 100% consistent with whole blood and showed plasma can be considered as a candidate STR genotyping samples; We can obtained 2~5 available Mini-STR loci, 1~8 available Y-STR loci (containing fetal STR information) using MiniFiler and YFiler kit. When the number of effective STR loci was relative sufficient (>6), for paternity inclusion family, the calculated CPI can reach 192653, for paternity exclusion family, 3~7 sites supported as deny paternity. Conclusion Using MiniFilerTM and YfilerTM kit maternal plasma for STR genotyping can be used in non-invasive prenatal paternity testing.