遗传 ›› 2026, Vol. 48 ›› Issue (4): 355-376.doi: 10.16288/j.yczz.25-152

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41个法庭科学Y-STR基因座的序列多态性特征分析与应用

缪磊1(), 张驰2, 康克莱2, 白雪2, 郭柯利2, 袁丽1(), 王乐2()   

  1. 1 证据科学教育部重点实验室(中国政法大学)司法文明协同创新中心北京 100088
    2 公安部鉴定中心法医遗传学公安部重点实验室北京 100038
  • 收稿日期:2025-07-17 修回日期:2025-09-30 出版日期:2026-04-20 发布日期:2025-10-10
  • 通讯作者: 袁丽,博士,主任法医师,教授,研究方向:法医物证学鉴定、教学和研究。E-mail: yuanliwcy@126.com;
    王乐,博士,警务技术正高级,研究方向:法医遗传学。E-mail: wangle_02@163.com
  • 作者简介:缪磊,博士研究生,专业方向:证据法学(法医学方向)。E-mail: 947676188@qq.com
  • 基金资助:
    国家重点研发计划课题(2022YFC3341001);公安部科技强警基础工作专项(2023JC15);中央级公益性科研院所基本科研业务费项目(2024JB027);中央级公益性科研院所基本科研业务费项目(2024JB046);中央高校基本科研业务费专项资金资助

Analysis and application of sequence polymorphism features of 41 forensic Y-chromosome short tandem repeat loci

Lei Miao1(), Chi Zhang2, Kelai Kang2, Xue Bai2, Keli Guo2, Li Yuan1(), Le Wang2()   

  1. 1 Key Laboratory of Evidence Science (China University of Political Science and Law), Ministry of Education, China & Collaborative Innovation Center of Judicial Civilization, Beijing 100088, China
    2 Key Laboratory of Forensic Genetics of Ministry of Public Security, Institute of Forensic Science, Ministry of Public Security, Beijing 100038, China
  • Received:2025-07-17 Revised:2025-09-30 Published:2026-04-20 Online:2025-10-10
  • Supported by:
    National Key R&D Program of China(2022YFC3341001);Ministry of Public Security of China(2023JC15);Institute of Forensic Science, Ministry of Public Security of China(2024JB027);Institute of Forensic Science, Ministry of Public Security of China(2024JB046);Fundamental Research Funds for the Central Universities

摘要:

Y染色体短串联重复(Y chromosome short tandem repeat,Y-STR)在法庭科学实战应用中具有举足轻重的地位,基于Y-STR的长度分型排查嫌疑人父系谱系的技术已在多起重特大刑事案件的侦破中发挥了至关重要的作用。但当遇到长度多态Y-STR单倍型相近或者相同的数据时,难以进行谱系的精细化区分。基于二代测序技术解析Y-STR的序列信息为解决上述困境带来了新的路径,并已成功应用于实际案例。然而,当前Y-STR序列特征的基础数据积累显著不足,序列多态性的研究也较为零散,缺乏对Y-STR序列变异的系统性总结,在一定程度上限制了Y-STR序列多态性在法庭科学的深度应用。本文基于文献公开数据,归纳在法庭科学中应用较广泛的41个Y-STR基因座重复区及侧翼区的序列特征,梳理Y-STR基因座重复区和侧翼区内可定义单倍群的单核苷酸多态性,并展望序列多态性可以拓展应用的场景,以期为利用Y-STR序列多态性精细化区分男性谱系、溯源父系生物地理祖先等研究提供参考。

关键词: 法医遗传学, Y染色体, STR, 序列多态性

Abstract:

Y chromosome short tandem repeat (Y-STR) is an important genetic marker in forensic practices. Length-based Y-STR genotyping method has been used to screen paternal lineages and successfully solved many serious cases. However, it is hard to discriminate paternal lineages with similar or identical length-based Y-STR genotypes. Next-generation sequencing-based Y-STR genotyping method could be used to solve the problem, and already be applied to criminal scene investigations. Nevertheless, previously studied data were inadequate and scattered, and sequence features of Y-STR loci were insufficiently summarized, which hindered the deep forensic application of Y-STR loci. Here, we review the sequence features of repeat and flanking regions on 41 widely used forensic Y-STR loci based on public literature data. Furthermore, we identify haplogroup-associated Y chromosome single nucleotide polymorphisms within these regions and explore potential applications of sequence-based polymorphisms. This review is expected to serve as a valuable reference for paternal lineage discrimination and paternal biogeographic ancestry inference using Y-STR sequence features.

Key words: forensic genetics, Y chromosome, short tandem repeat, sequence-based polymorphism