应用NGS确认STR检测中的OL峰案例研究

Case Study on the Application of NGS to Confirm Off-ladder Allele in STR Detection

基于毛细管电泳平台的短串联重复序列(Short tandem repeats,STR)检测(Capillary electrophoresis-Polymerase chain reaction,CE-PCR)是现阶段法医DNA实验室的金标准,二代测序(Next-generation sequencing,NGS)在法医学上的应用已经初现端倪,通过NGS可以解决传统CE-STR对OL(Off-ladder)峰形成原因难以判定的问题.本文对在毛细管电泳(CE)平台的STR鉴定工作中发现的一种OL峰血样进行NGS研究,确定了此样品的OL峰为D18S51基因座稀有等位基因,该基因型因超出试剂盒Ladder范围而形成OL峰.研究结果表明,NGS对阐明OL峰形成原因具有独特的优势,相关技术将在今后法医物证鉴定中得到广泛推广和应用.

Short tandem repeats(STR)detection based on capillary electrophoresis(CE)is the gold standard of forensic DNA laboratories at this stage.Next-generation sequencing(NGS)has been widely used in forensic genetics.NGS can make up for the lack of off-ladder allele’s judgment ability of traditional CE-STR.NGS can show the sequence polymorphism of gene locus and provide more effective information for limited samples.Converting the NGS data into STR data that meets the technical specifications for the handling of court cases,it can improve the accuracy of forensic genetics.