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

• Review • Previous Articles     Next Articles

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 Online:2026-04-20 Published:2025-10-10
  • Contact: Li Yuan, Le Wang E-mail:947676188@qq.com;yuanliwcy@126.com;wangle_02@163.com
  • 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

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