江苏常熟地区汉族人群47个微单倍型的遗传多态性及遗传结构分析
The Genetic Polymorphism and Structural Analysis of 47 Microhaplotypes in a Jiangsu Changshu Chinese Han Population
潘坤鹏 1冯耀森 2于文帅 3刘宗伟 4姚伊人 2赵杰 2康克莱 2张驰 2王乐 2吴坚5
作者信息
- 1. 昆明医科大学法医学院,昆明 650500;公安部鉴定中心,法医遗传学公安部重点实验室,现场物证溯源技术国家工程实验室,北京 100038
- 2. 公安部鉴定中心,法医遗传学公安部重点实验室,现场物证溯源技术国家工程实验室,北京 100038
- 3. 公安部鉴定中心,法医遗传学公安部重点实验室,现场物证溯源技术国家工程实验室,北京 100038;中国人民公安大学侦查学院,北京 100038
- 4. 江苏省常熟市公安局,常熟 215500
- 5. 昆明医科大学法医学院,昆明 650500
- 折叠
摘要
目的 探索江苏常熟地区汉族人群在47个常染色体微单倍型基因座的遗传多态性,评估应用效能及法庭科学参数.方法 采用MHSeqTyper47混合DNA鉴定试剂盒进行基因座复合扩增及文库构建,使用MiSeq FGx测序平台进行测序,测得的数据应用MHTyper数据分析软件进行分析,对获得的样本遗传信息进行评估,结合千人基因组数据(1000 Genomes Project phase 3,1KG)评估群体间遗传分化指数及遗传距离,并计算法庭科学参数.结果 江苏常熟地区汉族人群与1KG中的中国北京群体的遗传分化和遗传距离最小,并得到最接近的有效等位基因数(Ae),累积随机匹配概率(combined matching probability,CMP)与1 KG中东亚参考人群的5个群体均接近,为1.25×10-36,累积非父排除概率达0.999 9999999641.结论 本研究报告了47个微单倍型基因座在江苏常熟地区汉族人群中的等位基因频率及遗传多态性信息,为47个微单倍型在法医学应用中提供了数据基础.另外,比较了1KG参考人群与江苏常熟地区汉族人群的多态性差异,并揭示了47个微单倍型在江苏常熟地区汉族人群中的遗传结构.总的来说,1KG中的东亚人群参考数据更符合江苏常熟地区汉族人群的遗传特征.
Abstract
Objective To investigate the genetic polymorphism and structure of 47 autosomal microhaplotypes in the Han population in Changshu City,Jiangsu Province,and to evaluate the forensic efficiencies and forensic parameters.Methods The DNA library of unrelated individual samples was prepared according to MHSeqTyper47 kit manual and sequenced on the MiSeq FGx platform.Microhaplotype genotyping and sequencing depth statistics were processed using MHTyper.The genetic information of samples was then evaluated.The fixation index and genetic distance between the Jiangsu Changshu population and the reference populations in the 1000 Genomes Project phase 3(1KG)were calculated,and forensic parameters were evaluated.Results The fixation index and genetic distance between the Han population in Changshu,Jiangsu,and the CHB(Han Chinese in Beijing,China)reference population in 1KG were the lowest.The effective allele number(Ae)of each locus is also the closest between the two populations.The combined matching probability(CMP)of the Changshu Han population is close to the 5 populations of the East Asian reference super-population in 1KG,which is 1.25× 10-36,and the combined probability of exclusion reached 0.999 999 999 964 1.Conclusion This study reported the genetic polymorphism and allele frequency of 47 microhaplotypes in a Han population in Changshu City,Jiangsu Province.This information provides a data basis for 47 microhaplotypes in forensic applications.In addition,the polymorphism differences between the lKG reference population and the Han population in Changshu,Jiangsu were compared,and the genetic structure of 47 microhaplotypes in the Han population in Changshu,Jiangsu was revealed.In general,the reference data of the East Asian super-population in 1KG is more in line with the genetic characteristics of Han population in Changshu,Jiangsu.
关键词
法医遗传学/微单倍型/二代测序Key words
forensic genetics/microhaplotype/next generation sequencing引用本文复制引用
基金项目
国家自然科学基金(81971797)
国家重点研发计划(2022YFC3341001)
公安部技术研究计划(2017JSYJA05)
出版年
2024
NETL
NSTL
万方数据