遗传 ›› 2021, Vol. 43 ›› Issue (9): 880-889.doi: 10.16288/j.yczz.21-073

• 研究报告 • 上一篇    下一篇

49AISNP:东亚北方三个族群遗传来源推断

郭晓媛1,2(), 孙昌春1,2, 薛思瑶1,2, 赵慧2, 江丽2(), 李彩霞1,2()   

  1. 1. 山西医科大学,太原 030001
    2. 公安部物证鉴定中心,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
  • 收稿日期:2021-02-25 修回日期:2021-05-31 出版日期:2021-09-20 发布日期:2021-07-01
  • 通讯作者: 江丽,李彩霞 E-mail:827633812@qq.com;jl@mail.bnu.edu.cn;licaixia@tsinghua.org.cn
  • 作者简介:郭晓媛,在读硕士研究生,专业方向:法医学。E-mail: 827633812@qq.com
  • 基金资助:
    国家自然科学基金项目资助编号(81772027)

49AISNP: a study on the ancestry inference of the three ethnic groups in the north of East Asia

Guo Xiaoyuan1,2(), Sun Changchun1,2, Xue Siyao1,2, Zhao Hui2, Jiang Li2(), Li Caixia1,2()   

  1. 1. Shanxi Medical University, Taiyuan 030001, China
    2. Key Laboratory of Forensic Genetics, Beijing Engineering Research Center of Crime Scene Evidence Examination, National Engineering Laboratory for Forensic Science, Institute of Forensic Science, Beijing 100038, China
  • Received:2021-02-25 Revised:2021-05-31 Online:2021-09-20 Published:2021-07-01
  • Contact: Jiang Li,Li Caixia E-mail:827633812@qq.com;jl@mail.bnu.edu.cn;licaixia@tsinghua.org.cn
  • Supported by:
    Supported by the National Natural Science Foundation of China No(81772027)

摘要:

样本的族群来源推断在法医调查中可发挥重要作用,一个理想的推断体系是用一组较少的遗传标记实现较高的族群推断准确性。本研究调研搜集了区分东亚北方三个族群北方汉族、日本人和韩国人的428个祖先信息SNP (ancestry informative SNP, AISNP),获取了其在三个族群307份样本中的分型,通过位点Fst值及等位基因频率聚类等信息进一步精简位点,最终得到了一组49AISNP组合。基于307份样本利用留一法对49AISNP进行推断准确性验证,结果表明其在北方汉族、日本和韩国族群中的推断准确性均高于99%。49AISNP组合将有助于东亚地区亚族群的进一步区分。

关键词: 法医遗传学, 祖先信息SNP, 族群推断, Fst, 东亚北方族群

Abstract:

The ancestry inference of unknown samples plays an important role in forensic investigations. An ideal panel is a set of few markers with high ancestry inference accuracy. We collected 428 AISNP (ancestry informative SNP) that can distinguish the three ethnic groups in north of East Asia, including northern Han, Japanese and Korean. The genotypes of 428 AISNP in 307 samples from these three ethnic groups were obtained. Based on the information of Fst value and clustering by allele frequency, the panel was further refined into 49AISNP smart panel. Inference accuracy of the 49AISNP was verified by the leave-one-out method with 307 samples, and the results showed that its accuracy was higher than 99% in the northern Han, Japanese and Korean ethnic groups. This panel can also be helpful to further distinguish the ethnic sub-groups in East Asia.

Key words: forensic genetics, AISNP, ancestry inference, Fst, ethnic groups in north of East Asia