上海浦东地区汉族人群Y染色体STR和SNP遗传结构分析  

Genetic Structure of Y-chromosomal STR and SNP from Han-ethnic Population in Area of Pudong,Shanghai

作　　者：王斌 张枭 张公赢 汤真 贺子唯 田君哲 姚智卿 田露[1] 李士林[2] WANG Bin;ZHANG Xiao;ZHANG Gongying;TANG Zhen;HE Ziwei;TIAN Junzhe;YAO Zhiqing;TIAN Lu;LI Shilin(Institute of Criminal Science and Technology,Pudong Branch of Shanghai Public Security Bureau,Shanghai 200120,China;Department of Anthropology and Human Genetics,Fudan University,Shanghai 200438,China;Ministry of Education’s Key Laboratory of Contemporary Anthropology,School of Life Sciences,Fudan University,Shanghai 200438,China)

机构地区：[1]上海市公安局浦东分局刑事科学技术研究所,上海200120 [2]复旦大学生命科学学院人类学与人类遗传学系,上海200438 [3]复旦大学生命科学学院现代人类学教育部重点实验室,上海200438

出　　处：《刑事技术》2022年第6期611-617,共7页Forensic Science and Technology

基　　金：国家重点研发计划(2016YFC1201700);上海市市级科技重大专项(2017SHZDZX01)。

摘　　要：本文研究上海浦东地区汉族人群Y-STR基因座和Y-SNP单倍群的基因分型,比较上海浦东汉族与其他人群之间的遗传关系,分析浦东汉族人群遗传结构。采用Yfiler^(TM) Platinum PCR扩增试剂盒对500名浦东汉族无关个体的38个Y-STR基因座进行基因分型,计算基因频率、单倍型多样性等群体遗传学指标。基于38个Y-STR基因座,应用EA-Ypredictor软件进行单倍群预测,应用Pedigree Tagging System家系标记系统进行单倍群验证并定义,并与其他人群进行比较。浦东汉族500名无关个体观察到493种单倍型。单倍型多样性(HD)为0.9999439,匹配概率(HMP)为0.002056,鉴别能力(DC)为0.9860,独特单倍型比例(FUH)为0.9720。基于多维尺度分析结果表明浦东汉族与江苏汉族(Rst=0.0009)和浙江汉族(Rst=0.0009)遗传关系最近。Y-SNP分析结果显示,浦东汉族人群主要单倍群为O单倍群,比例为82.60%,O1a-M119的比例为25.20%。EA-Ypredictor的主要单倍群预测准确率达97.60%。38个Y-STR基因座在浦东汉族人群中有较高的遗传多态性,可以满足法医学应用。Y-SNP和Y-STR联合应用实现了对浦东汉族人群遗传结构的精细解析。本研究获得的基础数据应可为群体遗传学和法医学研究提供数据参考。Both the forensic and population genetics build on fundamental genetic data and consanguineous relevancy.Therefore,such a purpose-oriented exploration was here conducted with the Han-ethnic population in Shanghai Pudong area through investigation of those pertinent Y-STR loci and Y-SNP haplogroups plus comparison of its genetic relationship with the other populations,hence having the correlating genetic structures analyzed.With utilization of Yfiler^(TM) Platinum PCR amplifi cation kit,the selected 38 Y-STR loci were genotyped from 500 unrelated individuals of Han-ethnic population among Pudong area.Calculation was carried out into the received genotypic data to deliver the related population genetic indexes,e.g.,the gene frequency and the haplotype diversity.Moreover,the EA-Ypredictor was used for haplogroup prediction about the obtained 38 Y-STR loci,with the Pedigree Tagging System being chosen for haplogroup validation and defi nition,thereby having the haplogroup frequency data compared with the other populations.There were 493 haplotypes observed from the 500 Pudong Han-ethnic individuals,showing the haplotype diversity(HD)value as 0.9999439,the matching probability(MP)value as 0.002056,the discriminative power(DC)value as 0.9860,and the fraction of unique haplotype(FUH)value as 0.9720.Furthermore,MDS analysis demonstrated that the Pudong Han-ethnic population had the closest genetic affi nity to its same racial group in both Jiangsu(Rst=0.0009)and Zhejiang(Rst=0.0009).Also,Y-SNP exploration suggested that the Pudong Han-ethnic population have its main haplogroup as the O haplogroup that accounts for 82.60%and the O1a-M119 for 25.20%,indicting the EA-Ypredictor reached an accuracy of 97.60%for main haplogroup prediction.In conclusion,38 Y-STR loci were tested from the Pudong Han-ethnic population,attaining such a high genetic polymorphism that could meet the application of forensic genetics.Additionally,EA-Ypredictor’s Y-SNP probing into the Y-STR data realized a fi ne analysis about the genetic structure

关 键 词：法医遗传学 遗传多样性 Y-STR基因座 Y-SNP单倍群 上海浦东 汉族 

分 类 号：DF795.2[医药卫生—法医学]