D21S11和Penta D分型异常在21三体综合征鉴定中的应用

The application of D21S11 and Penta D with tri-allelic patterns in the parentage testing for 21 trisomy syndrome identification

目的通过多位点STR复合扩增技术进行亲子关系鉴定并检测21号染色体上基因座的STR分型,探讨亲权关系鉴定中D21S11和Penta D基因座分型异常在21三体综合征鉴定中的应用。方法应用Goldeneye 20A和华夏TM白金PCR扩增试剂盒进行PCR扩增以及毛细管电泳,并进行STR分型及结果判读。结果两种试剂盒在共有的19个STR位点的分型结果一致,包括21号染色体上的三等位基因的结果,并且被检人的STR分型结果符合单亲遗传关系,一个被检人确定为21三体综合征。结论 D21S11和Penta D基因座分型在Goldeneye 20A和华夏TM白金PCR扩增试剂盒能够相互印证的基础上可以用于21三体综合征的基因诊断。

Objective To identify the STR genotype of chromosome 21 inparentage testing by STR multiplex amplification technology and explore the application of D21S11 and Penta D with tri-allelic patterns in the parentage testing for 21 trisomy syndrome identification. Methods PCR amplification was measured by using Goldeneye 20A PCR amplification kit and HuaxiaTM Platinum Kltand the capillary electrophoresis was used for STR genotyping. Results The STR genotyping results of the two kits were identical on the common 19 STR loci,including the tri-allelic of loci on chromosome 21 ,and the STR genotyping results of the two indi- viduals were in accordance with the single-parent genetic rule,and one subject was identified as Down syndrome. Conclusion Genotyping of D21S11 and Penta D loci can be used for gene diagnosis for Down syndrome based on the mutual confirmation of Goldeneye 20A Kit and HuaxiaTM Platinum Kit.