基于二代测序平台的261plex微单倍型检测体系的研究  

Study of 261plex microhaplotype detection system based on second-generation sequencing platform

作　　者：杨成文 许欣[1] 罗莉静[1] 魏金叶 高智伟[1] 王新杰[1] Yang Chengwe Xu Xin;Luo Lijing;Wei Jinye;Gao Zhiwei;Wang Xinjie(Weifang Municipal Public Security Bureau,Weifang,Shandor 261061,China)

机构地区：[1]潍坊市公安局,山东潍坊261061

出　　处：《中国法医学杂志》2023年第4期396-405,共10页Chinese Journal of Forensic Medicine

摘　　要：目的建立基于二代测序平台的261plex微单倍型检测体系,进行遗传学调查和法医物证检验,评价该体系的法医学应用价值。方法以人类基因组GRCh38为参考序列,使用dbSNP数据库以千人基因组计划中东亚人群为目标人群,等位基因频率介于0.1~0.5之间筛选SNP位点,使用Ion AmpliSeq Designer设计引物。调查山东汉族200名无关个体的261plex遗传多态性,并对该体系进行性能评价。结果本文建立的261plex微单倍型检测体系片段短、灵敏度高、稳定性好、特异性强、个体识别率高、混合及降解检材适用性好。结论该检测体系在法医个体识别和亲权鉴定,特别是混合及降解检材检验方面有很高的应用价值。Objective To establish a 261plex microhaplotype detection system based on a second-generation sequencing platform,conduct genetic investigation and forensic biological evidence examination,and evaluate the forensic application value of the system.Methods Using the human genome GRCh38 as the reference sequence,the dbSNP database was used to screen SNP loci with allele frequencies between 0.1~0.5 using the East Asian population in the Thousand Genomes Project as the target population,and primers were designed using Ion AmpliSeq Designer.The 261plex genetic polymorphisms were investigated in 200 unrelated individuals of Han Chinese in Shandong and the performance of the system was evaluated.Results The 261plex microhaplotype detection system established in this paper had short fragments,high sensitivity,good stability,high specificity,high individual recognition rate,and good applicability to mixed and degraded test materials.Conclusion The assay system has high application value in forensic individual identification and parentage identification,especially in the examination of mixed and degraded specimens.

关 键 词：二代测序 微单倍型 混合及降解检材检验 个体识别 亲权鉴定 

分 类 号：R919.2[医药卫生—药学]