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使用80-Y-STR面板对突变率和男性差异化的全面评估

Xiaoyan Ma¹, Ran Li², Jiamin Xie²

¹Faculty of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou 510080, PR China; Department of Obstetrics and Gynecology, Guangdong Provincial Key Laboratory of Major Obstetric Diseases, Forensic Identification Institute, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou 510150, PR China.

Forensic science international. Genetics

|February 3, 2026

概括

这项研究介绍了用于分析Y-STR突变的KinshipY,并估计了80个Y-STR的突变率. 这些发现支持使用扩展的Y-STR面板和步差值来改进法医DNA数据库搜索.

科学领域:

法医遗传学法医遗传学
人口遗传学人口遗传学
人类遗传学人类遗传学

背景情况:

在法医调查中,Y染色体短串重复 (Y-STR) 对于追踪父系血统至关重要.
扩大Y-STR面板和最佳数据库搜索策略的区分能力需要进一步定义.

研究的目的:

为Y-STR分析开发一个交互式平台 (kinshipY),包括突变分析,谱系可视化和统计评估.
用法医分析系统多重序列SetB套件实证估计80个Y-STR的突变率.
评估Y-STR面板在男性亲属和非亲属个体之间的差异化率.

主要方法:

开发了交互式在线平台kinshipY,用于Y-STR数据分析.
使用488对父子对估计的Y-STR突变率.
评估了三个根深蒂固的家族中的差异化率,以及使用SetB面板和其他Y-STR面板的无关男性之间的差异化率.

主要成果:

确定了120个Y-STR突变,总突变率为3.1 × 10−3;95%是单步突变.
SetB小组区分了27.96%的父子对和50%的兄弟姐妹,在≥11个半转化时达到100%的差异化.
阶段差异值≥15区分了99.59%的无关男性,表现优于位置差异值和较小的Y-STR面板.

结论:

SetB面板为Y-STR分析提供了增强的分辨率.
建议在法医数据库搜索中使用强大的Y-STR标记集,步差匹配,动态值,并包括遥远的亲属用于值估计.

关键词:

男人差异化差异化男性差异化突变率是指突变的发生率.这是Y-STRR.在Y-STR数据库中搜索搜索.

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