摘要
目的对23个常染色体短串联重复(short tandem repeats,STR)基因座在济宁地区汉族人群中的遗传多态性进行群体遗传关系分析,并探讨其法医学应用价值。方法采用华夏白金试剂盒对济宁地区554名汉族无关健康个体进行常染色体STR分型检测,统计分析STR基因座的频率分布及法医遗传学参数,并与国内其他26个地区人群遗传数据进行比较分析。结果 23个常染色体STR基因座共观察到290个等位基因。各STR基因座均符合Hardy-Weinberg平衡,观察杂合度为0.6498—0.9206,多态信息含量为0.5709—0.9153,个体识别率为0.8002—0.9867,非父排除率为0.3550—0.8376,累积个体识别率为0.9999999999999999999999999987264,累积非父排除率为0.9999999996764。人群间比较分析显示,不同地区汉族人群间具有遗传相似性,而汉族人群与少数民族存在较大遗传差异,尤其与新疆哈萨克族、新疆维吾尔族、新疆乌孜别克族、四川藏族以及内蒙古蒙古族。此外,汉族人群基本聚类为南北2大类并且济宁地区汉族人群归属为北方汉族,与人群的地理分布一致,进一步为南北方汉族遗传结构差异提供了群体遗传学证据。结论 23个常染色体STR基因座在济宁地区汉族人群具有较高遗传多态性和信息量,能够满足本地区人群法医学亲权鉴定和个人识别的要求,并能为群体遗传学研究提供准确的参考数据。
Objective To investigate the genetic polymorphisms of 23 autosomal short tandem repeats(STR)loci of Han population in Jining city of Shandong province,so as to explore the genetic relationships among populations and evaluate its application in forensic medicine.Methods The samples of 554 unrelated healthy individuals from Han population in Jining were genotyped with Huaxia Platinum kit.The frequency distribution and forensic genetic parameters of 23 autosomal STR loci were analyzed statistically and compared with other 26 populations from different regions.Results A total of 290 alleles were identified across 23 autosomal STR loci.All of the loci were in Hardy-Weinberg equilibrium with the observed heterozygosity 0.6498—0.9206,polymorphic information content 0.5709—0.9153,discrimination power 0.8002—0.9867 and probability of paternity exclusion 0.3550—0.8376.The combined discrimination power and cumulative probability of exclusion were 0.9999999999999999999999999987264 and 0.9999999996764,respectively.Comparative analysis of populations showed the genetic similarities among Han populations distributed in different Chinese administrative divisions;however,genetic differences had been observed between Han groups and minorities,especially Kazakh,Uyghur,Uzbek,Tibetan and Mongolian.In addition,the Han population was basically divided into North and South groups,and the Han population in Jining belonged to the northern Han nationality,which was consistent with the geographical distribution of the population.This further provided genetic evidence for the genetic structure differences between the southern and northern Han nationality.Conclusion These 23 autosomal STR loci,demonstrated high polymorphism and information content in the Han population of Jining,can meet the criteria of personal identification and parentage testing,and provide accurate references for population genetic studies.
作者
刘奇
王丹
伍柳兴
张倩
史文哲
党珍
王业全
LIU Qi;WANG Dan;WU Liuxing;ZHANG Qian;SHI Wenzhe;Dang Zhen;WANG Yequan(Institute of Forensic Medicine and labo-ratory Medicine of Jining Medical University,Jining 272067,China)
出处
《中国输血杂志》
CAS
2020年第12期1271-1275,共5页
Chinese Journal of Blood Transfusion
基金
济宁医学院教师科研扶持基金(JYFC2018FY004)
山东省自然科学基金项目(ZR2019PH039)。
关键词
常染色体短串联重复
遗传多态性
遗传关系
汉族
autosomal short tandem repeat
genetic polymorphism
genetic relationships
Chinese Han
