中国内蒙古地区蒙古族人群的遗传推断模型构建  

Genetic Inference Model Research of Mongolian Population in Inner Mongolia of China

作　　者：胡莹琳 朱信 钟巧娥 徐颖 江丽 李彩霞 HU Yinglin;ZHU Xin;ZHONG Qiaoe;XU Ying;JIANG Li;LI Caixia(Shanxi Medical University,Taiyuan 030001,China;Institute of Forensic Science,Ministry of Public Security,Key Laboratory of Forensic Genetics,National Engineering Laboratory for Forensic Science,Beijing 100038,China;Guizhou Medical University,Guiyang 550025,China;Criminal Investigation Team of Inner Mongolia Autonomous Region Public Security Department,Hohhot 010051,China)

机构地区：[1]山西医科大学,太原030001 [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]贵州医科大学,贵阳550025 [4]内蒙古自治区公安厅刑侦总队,呼和浩特010051

出　　处：《刑事技术》2023年第6期593-601,共9页Forensic Science and Technology

基　　金：国家重点研发计划(2022YFC3341004);国家自然科学基金项目(82171870);中央级公益性科研院所基本科研业务费专项资金项目(2022JB020)。

摘　　要：单核苷酸多态性(single nucleotide polymorphisms,SNP)常用作法医遗传学个体识别和族群推断的遗传标记。本研究基于中国内蒙古地区蒙古族163份样本和国内其他13个人群777份样本全基因组SNP数据,使用PLINK和ADMIXTURE软件研究人群遗传结构,使用PLINK软件进行全基因组关联分析(Genome Wide Association Studies,GWAS)筛选蒙古族特异性SNP位点。使用DAA软件计算参考人群和7个国内测试人群569份样本的群体匹配概率、似然比及祖先成分等结果,以对推断模型进行准确性评估。人群遗传结构分析结果显示蒙古族人群以东亚北方成分为主,与阿尔泰语系的其他人群聚类最近。最终共筛选出644个蒙古族特异性祖先信息SNP(ancestry informative SNP,AISNP)位点。参考人群中,蒙古族的推断准确性为98.16%,其他人群为100%。测试人群中,蒙古族的推断准确性为86.67%,其他人群为96.15%~100%。研究表明蒙古族人群与东亚其他亚人群存在遗传结构差异,筛选出的644个AISNP位点可对蒙古族人群与东亚其他亚人群进行遗传推断区分,对提升东亚地区亚人群的分辨力具有重要意义。Single nucleotide polymorphism(SNP)profiling is a commonly used genetic tool for individual identification and ancestry inference in forensic genetics.This study was constructed based on the whole genome SNP data of 163 Mongolian individuals from Inner Mongolia region of China and 777 individuals from 13 other populations in China.PLINK and ADMIXTURE software was used to analyze the genetic structure of these populations.Plink software was used for Genome Wide Association Studies to screen Mongolian specific SNPs.The DAA software was used to calculate the population matching probability,likelihood ratio and ancestral components of the reference population and 569 individuals from 7 test populations to evaluate the accuracy of the inference model.The results of population genetic structure analysis showed that the Mongolian population is mainly composed of northern East Asian component,and is closely clustered with other Altaic populations.644 Mongolian specific AISNP loci were screened.Among the reference populations,the inference accuracy of the Mongolian population was 98.16%,and the other populations were 100%.Among the test populations,the accuracy of the Mongolian population was 86.67%,and the other populations were 96.15%to 100%.This study indicates that there are genetic structure differences between the Mongolian population and other East Asian subpopulations.The 644 selected AISNP loci can be used for genetic inference between the Mongolian population and other East Asian subpopulations,which is of great significance for improved ancestry inference within East Asia.

关 键 词：法医遗传学 GWAS分析 蒙古族 族群推断 单核苷酸多态性(SNP) 

分 类 号：DF795.2[医药卫生—法医学]