遗传 ›› 2022, Vol. 44 ›› Issue (4): 335-345.doi: 10.16288/j.yczz.22-006

• 研究报告 • 上一篇    下一篇

中国汉族人群66个InDel基因座的遗传多态性

王雪倩1,2(), 张庆珍2, 程鹏2, 董婷婷2, 李卫国1(), 周喆2(), 王升启2()   

  1. 1. 河南师范大学生命科学学院,新乡 453007
    2. 军事科学院军事医学研究院辐射医学研究所,北京 100850
  • 收稿日期:2022-01-06 修回日期:2022-03-15 出版日期:2022-04-20 发布日期:2022-03-24
  • 通讯作者: 李卫国,周喆,王升启 E-mail:Wangxqer0122@163.com;liwg0618@htu.edu.cn;zhouzhe@bmi.ac.cn;sqwang@bmi.ac.cn
  • 作者简介:王雪倩,在读硕士研究生,专业方向:分子生物学。E-mail: Wangxqer0122@163.com

Genetic polymorphisms of 66 InDel loci in the Chinese Han population

Xueqian Wang1,2(), Qingzhen Zhang2, Peng Cheng2, Tingting Dong2, Weiguo Li1(), Zhe Zhou2(), Shengqi Wang2()   

  1. 1. College of Life Sciences, Henan Normal University, Xinxiang 453007, China
    2. Beijing institute of Radiation Medicine, Academy of Military Medical Sciences, Beijing 100850, China
  • Received:2022-01-06 Revised:2022-03-15 Online:2022-04-20 Published:2022-03-24
  • Contact: Li Weiguo,Zhou Zhe,Wang Shengqi E-mail:Wangxqer0122@163.com;liwg0618@htu.edu.cn;zhouzhe@bmi.ac.cn;sqwang@bmi.ac.cn

摘要:

插入/缺失多态性(insertion/deletion polymorphism, InDel)遗传标记是一类由DNA片段的插入或者缺失形成的变异形式,在降解检材身份识别领域展现出优势。本文从dbSNP数据库中自主筛选66个InDel基因座,基于高通量测序系统建立了一套多重复合扩增体系(66-plex InDels)。通过评估66-plex InDels在251名中国汉族人群的群体遗传学参数,分析其法医学应用价值。研究结果表明:经过Bonferroni法校正,66个InDel基因座在中国汉族人群中均符合Hardy-Weinberg平衡定律(P>0.000 758),各基因座间处于连锁平衡状态。各基因座平均观测杂合度(Ho)为0.482,平均期望杂合度(He)为0.483,平均个体识别力(DP)为0.612,平均多态性信息含量(PIC)为0.365,累计个体识别率(TDP)为0.999 999 999 999 999 999 999 999 999 428 18。66个InDel基因座的二联体累计非父排除概率(CPEduo)为0.999 739,三联体累计非父排除概率(CPEtrio)为0.999 999 999 417。结果表明:66个InDel基因座在中国汉族人群中具有良好的遗传多态性,可独立应用于法医个体识别和亲权鉴定研究。

关键词: 插入/缺失多态性, 中国汉族人群, 个体识别, 亲权鉴定

Abstract:

Insertion/deletion polymorphism (InDel) genetic markers refer to insertion or deletion of DNA fragments into genomic DNA, which have advantages in the identification of degraded samples. In this study, we independently screened 66 highly polymorphic InDel markers from the dbSNP database to establish a multiplex PCR system for forensic DNA identification using next-generation sequencing system (66-plex InDels). We assessed the population genetic data among 251 Chinese Han population using this system and evaluated their potential forensic application. The results showed that all 66 InDel loci conformed to the Hardy-Weinberg equilibrium (P>0.000 758), and all the pairwise InDel loci were in linkage equilibrium after Bonferroni correction. The mean observed heterozygosity (Ho) was 0.482, the mean expected heterozygosity (He) was 0.483,the mean discrimination power (DP) was 0.612, the mean polymorphism information content (PIC) was 0.365, the total discrimination power (TDP) reached 0.999 999 999 999 999 999 999 999 999 428 18. The cumulative power of exclusion for 66 InDel loci was 0.999 739 in duo cases (CPEduo) and was 0.999 999 999 417 in trios cases (CPEtrio). The results show that the 66 InDel loci have high genetic polymorphisms in the Chinese Han population and can be used independently for forensic DNA identification and paternity testing.

Key words: insertion/delationpolymorphism (InDel), Chinese Han population, DNA identification, paternity testing