【摘要】 目的 探讨STRtyper-21G试剂盒与GlobalFiler^TM试剂盒、PowerPlex^?21试剂盒易发生容差的基因座并分析原因。方法 通过比对数据库人员样本的STRtyper-21G试剂盒分型与其他实验室不同试剂盒DNA分型进行同一性分析，比中5 870条通报，对有容差基因座的样本分别使用STRtyper-21G试剂盒、GlobalFiler^TM试剂盒、PowerPlex^?21试剂盒等进行复核验证，同时对容差基因座重新设计引物并测序分析。结果 共发现同一样本STRtyper-21G试剂盒分型与其他常染色体试剂盒分型存在一容差样本8例（8/5 870），容差基因座发生在D18S51、D8S1179、D2S1338基因座。测序显示：D18S51基因座丢失的等位基因在核心序列上游第79位碱基发生G-A突变；D8S1179基因座丢失的等位基因在核心序列上游第4位碱基发生C-A突变；D2S1338基因座丢失的等位基因在核心序列下游第22位碱基发生了C-T突变。结论 本研究数据库比对发生容差的基因座均为引物结合区突变所致。研究结果可为STRtyper-21G试剂盒建库但比中结果中亲缘有容差的分析提供参考，当容差发生于上述基因座且容差分型为纯合子分型时应谨慎做出排除结论。更多还原

【Abstract】 Objective To investigate the loci in the STRtyper-21G kit that are prone to tolerance mismatches when compared with the GlobalFiler^TM kit and the PowerPlex^? 21 kit, and to analyze the underlying causes. Methods A total of 5,870 database comparison reports involving STRtyper-21G profiles and other autosomal STR kits were examined for identity alignment. Samples showing mismatched loci were re-tested using the STRtyper-21G, GlobalFiler^TM, and PowerPlex^? 21 kits. For loci with mismatches, primers were redesigned and sequencing was performed. Results Eight mismatched samples（8/5 870） were identified, involving the loci D18S51, D8S1179, and D2S1338. Sequencing revealed that the allele dropout at D18S51 was due to a G→A mutation at the 79th base upstream of the core sequence; at D8S1179, a C→A mutation at the 4th base upstream; and at D2S1338, a C→T mutation at the 22nd base downstream. Conclusion All mismatches were attributable to mutations in primer binding regions. These findings provide reference for interpreting mismatch results in the STRtyper-21G database. When mismatches occur at these loci and the profiles are homozygous, exclusion conclusions should be made with caution.更多还原