法医学杂志

法医学杂志 ›› 2021, Vol. 37 ›› Issue (4): 539-545.DOI: 10.12116/j.issn.1004-5619.2020.500713

• 论著 • 上一篇    下一篇

东亚人群族源推断SNP Panel分析

贾振军1， 高春芳1， 钱尊磊1， 刘卓1， 汤强2， 苑美青3   

  1. 1. 中国人民公安大学侦查学院，北京 100038； 2. 中国人民公安大学警体战训学院，北京 100038； 3. 公安部物证鉴定中心 法医学遗传学公安部重点实验室，北京 100038
  • 发布日期:2021-08-25 出版日期:2021-08-28
  • 通讯作者: 苑美青，女，博士，副主任法医师，主要从事法医微生物研究；E-mail：sequence17@163.com
  • 作者简介:贾振军（1977—），男，博士，副教授，主要从事法医遗传学研究；E-mail：zhenjunjia@163.com
  • 基金资助:
    中国人民公安大学基本科研业务费资助项目（2021JKF104）

SNP Panel Analysis of Ancestry Inference in East Asian Populations

JIA Zhen-jun1, GAO Chun-fang1, QIAN Zun-lei1, LIU Zhuo1, TANG Qiang2, YUAN Mei-qing3   

  1. 1. College of Criminal Investigation, People’s Public Security University of China, Beijing 100038, China; 2. College of Police Physical and Tactical Training, People’s Public Security University of China, Beijing 100038, China; 3. Key Laboratory of Forensic Genetics, Institute of Forensic Science, Ministry of Public Security, Beijing 100038, China
  • Online:2021-08-25 Published:2021-08-28

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摘要： 目的 研发东亚人群中具有较高个体识别率及族源分析能力的SNP Panal。 方法 以耶鲁大学KIDD教授建立的55个SNP Panel和加利福尼亚大学戴维斯分校SELDIN教授建立的128个SNP Panel，共计170个SNP Panel（简称170 SNP Panel）为基础，收集其在东亚人群中的检测数据，计算SNP位点的遗传学参数，结合热图分析结果筛选出适合东亚人群的SNP位点，并检测部分藏族及汉族人群样本，运用STRUCTURE软件、主成分分析、热图分析等方法分析其用于族源推断的可能性。 结果 筛选出45个SNP组成的Panel（简称45 SNP Panel），其中SNP位点的遗传学参数平均值优于170 SNP Panel，与170 SNP Panel具有相同的族源分析及推断能力。 结论 在族源推断信息上，45 SNP Panel完全可以替代170 SNP Panel，达到相同的族源分析及推断能力。而在遗传学参数上，在东亚人群中45 SNP Panel优于170 SNP Panel，体现了其潜在的重要法医学应用价值。

关键词: 法医遗传学, 单核苷酸多态性, 主成分分析, 热图, 族源推断, 东亚人群

Abstract: Objective To develop an SNP Panel for East Asian population, which has a high individual identification rate and the capability of ancestry analysis. Methods The 55 SNP Panel by Professor KIDD of Yale University and the 128 SNP Panel by Professor SELDIN of Davis School of California University, 170 SNP Panel in total was used as the basis and its test data in the East Asian population was collected. The genetic parameters of SNP loci were calculated and combined with the results of heatmap analysis to screen SNP loci suitable for East Asian population. Some Tibetan and Han samples were tested. The possibility of using the SNP loci in ancestry inference was analyzed by means of STRUCTURE analysis, principal component analysis and heatmap analysis. Results A Panel with 45 SNPs （45 SNP Panel） was screened out, and the average genetic parameters of each SNP were better than 170 SNP Panel, with the same ancestry analysis and inference ability. Conclusion In terms of ancestry inference information, the 45 SNP Panel can completely replace the 170 SNP Panel and achieve the same ancestry analysis and inference ability. In genetic parameters, 45 SNP Panel is better than 170 SNP Panel in the East Asian population, which shows its important potential forensic application value.

Key words: forensic genetics, single nucleotide polymorphism （SNP）, principal component analysis （PCA）, heatmap, ancestry inference, East Asian population

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