74个微型的大量并行测序用于在美国人口中进行关系测试
Fabio Oldoni1, Chiara Della Rocca2, Leena Yoon3
1Arcadia University, Department of Chemistry & Physics, 450 S Easton Rd, Glenside, PA 19038, United States.
Forensic science international. Genetics
|November 8, 2025
概括
微型 (MHs) 在近亲关系测试中表现强,优于传统的STRs. 需要更大的MH面板来可靠地识别法医应用中的远亲.
科学领域:
- 法医遗传学 法医遗传学
- 人口遗传学 人口遗传学
- 下一代测序技术是下一代的测序技术.
背景情况:
- 微型 (MHs) 是新兴的法医标记,在人类识别中比传统的短串重复 (STRs) 有优势.
- MHs提供了诸如低突变率,无口吃,与大规模并行测序 (MPS) 的兼容性等好处,可用于亲属测试和混合物解卷.
- 使用SNP微阵列的现有亲属测试方法对DNA质量,数量和混合物有局限性,MHS可能可以克服这些局限性.
研究的目的:
- 在Ion GeneStudio S5平台上评估74位点微型 (MH) 面板的表现,用于亲属测试.
- 为了比较74个位点的MH面板与29个位点的STR面板在美国四个主要人口中的歧视力.
- 评估MHs在区分各种程度的家庭关系中的实用性,包括亲子关系,完全兄弟姐妹,半兄弟姐妹和表兄弟姐妹.
主要方法:
- 使用来自非洲裔美国人,欧洲裔美国人,西南拉美裔美国人和东亚裔美国人的372个家庭样本对74个复合体的MH面板进行测序.
- 使用Familias软件进行绩效评估,以区分相关和非相关的个人.
- 对不同关系类型的 MH 和 STR 生成的 log10LR 值进行比较.
主要成果:
- 74位的MH面板在父子关系和完全兄弟姐妹关系方面表现优于29位的STR面板,产生更高的log10LR值.
- 无论是MH还是STR,由于相关和非相关对之间的重叠,在区分半兄弟姐妹方面都有局限性,尽管MH提供了更高的log10LR.
- 74位 MH 面板和 29位 STR 面板都无法可靠地区分表亲,显示 log10LR 值的广泛重叠.
结论:
- 74个位点的Ion AmpliSeqTM MH面板增强了亲密亲属 (一级亲属) 的歧视权,并改善了二级亲属的解决方案.
- 为了可靠地识别远距离的家族关系,需要更大的微哈普罗型面板 (≥200个位置).
- 这些发现支持将MHS更广泛地整合到法医科学中,用于亲属关系分析,混合物解卷和祖先推断.
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