陕西汉族35个插入/缺失位点的多态性与遗传结构分析  

Polymorphisms of 35 Insertion/deletion Loci and Genetic Structure of the Han Population in Shaanxi Province

作　　者：赵聪颖 赵铭 张蕴盈 许惠 郭瑜鑫 朱波峰 ZHAO Congying;ZHAO Ming;ZHANG Yunying;XU Hui;GUO Yuxin;ZHU Bofeng(Guangzhou Key Laboratory of Forensic Multi-omics for Precision Identification,School of Forensic Medicine,Southern Medical University,Guangzhou 510515,China;Shangqiu Puji Forensic Clinical Forensic Institute,Shangqiu,Henan 476600,China;Key Laboratory of Shaanxi Province for Craniofacial Precision Medicine Research,Hospital of Stomatology,Xi’an Jiaotong University,Xi’an 710004,China)

机构地区：[1]南方医科大学法医学院广州市法医多组学精准鉴识重点实验室,广州510515 [2]商丘普济法医临床司法鉴定所,河南商丘476600 [3]西安交通大学口腔医院陕西省颅颌面精准医学研究重点实验室,西安710004

出　　处：《中国医学科学院学报》2022年第6期933-940,共8页Acta Academiae Medicinae Sinicae

基　　金：国家自然科学基金(81373248)。

摘　　要：目的分型并评估35个插入/缺失多态性(DIP)位点在陕西汉族中的多态性及法医学应用效能,并探索陕西汉族的群体遗传结构。方法收集来自陕西地区汉族305名无关健康个体血样,基于课题组前期甄选并构建的包含35个DIP位点的复合扩增体系进行检测和分型,并计算35个DIP位点的等位基因频率和法医学参数。通过分子方差分析、系统发育树的构建、多维尺度分析、主成分分析和遗传结构分析,进一步探索陕西汉族与29个参考群体之间的群体遗传关系。结果35个DIP位点在陕西汉族中累积的个体识别率和非父排除率值分别为0.999999999999991119和0.9991。群体遗传学分析结果显示陕西汉族与我国不同地区的汉族群体遗传关系更近。结论35个DIP位点在陕西汉族的多态性较高,可应用于法医学个体识别,也为陕西汉族的群体遗传学研究提供了基础数据。Objective To evaluate the genetic polymorphisms and forensic efficiencies of 35 deletion/insertion polymorphism(DIP)loci and explore the genetic structure of the Han population in Shaanxi province.Methods Blood samples of 305 unrelated healthy individuals of the Han population in Shaanxi province were collected.And the allelic frequencies and forensic parameters of 35 DIP loci were calculated and analyzed based on their genotyping results by a self-developed amplification system.The genetic relationship of the Han population in Shaanxi province with the reference populations was explored by molecular variance analyses,phylogenetic tree reconstruction,multidimensional scale analyses,principal component analyses,and STRUCTURE analyses.Results The combined power of discrimination and probability of exclusion of the 35 DIP loci in the Han population in Shaanxi province were 0.999999999999991119 and 0.9991,respectively.Population genetic analyses indicated that the Han population in Shaanxi province shared relatively closer genetic relationships with those in other regions of China.Conclusions The 35 DIP loci possessed high polymorphisms and could be used as an effective tool for forensic identification of individuals of the Han population in Shaanxi province.Furthermore,the 35 DIP loci could provide basic data for the genetic analysis of the Han population in Shaanxi province.

关 键 词：法医遗传学 插入/缺失多态性 陕西汉族 遗传结构 

分 类 号：DF795.2[医药卫生—法医学]