用基于序列的STR基因型定型与基于长度的STR基因型定型来评估亲属关系分析的统计权益
Huseyin Sevay1, Naciye Durmus2, Gonul Filoglu2
1Software Engineering Program, Middle East Technical University, North Cyprus Campus, Guzelyurt, North Cyprus, Turkey.
International journal of legal medicine
|October 3, 2025
概括
下一代测序 (MPS) 基因型鉴定通过结合DNA序列变异显著提高了亲属分析中的统计能力. 与传统的毛细管电泳 (CE) 方法相比,这种方法在概率比率 (LR) 中提供了实质性的增加.
科学领域:
- 法医遗传学 法医遗传学
- 分子生物学分子生物学
- 统计遗传学 统计遗传学
背景情况:
- 传统的毛细管电泳 (CE) 基因型鉴定依赖于基于长度的短并列重复 (STR) 位点的分析.
- 在CE方法中存在捕获全谱遗传变异的缺陷,这可能会限制亲属分析中的统计能力.
- 下一代测序 (MPS) 技术提供更高的分辨率,使得在STR位点和相邻区域内检测到序列级别的变化.
研究的目的:
- 评估使用基于序列的MPS基因型化与基于长度的CE基因型化用于STR位点的概率比率 (LR) 计算的统计权益.
- 评估将STR DNA序列变异和侧边单核酸多态 (SNP) 纳入LR计算的影响.
- 在复杂的亲属关系分析中展示MPS的增强实用性,特别是在远距离关系中.
主要方法:
- 分析了来自四个土耳其家庭的49个个体的137种对对关系.
- 从MPS Precision ID GlobalFiler NGS STR面板套件和CE GlobalFilerTM PCR放大套件中获得的基因型数据的比较.
- 开发一个字母和数字等位基因重新编码系统,将STRDNA序列变异和侧边SNP数据集成到LR计算中.
主要成果:
- 基于MPS的基因型鉴定确定了37个STRDNA序列变异和26个侧边SNP,相比之下,来自CE的150个独特等位基因.
- 与MPS一起观察到平均组合LR (cLR) 的显著增加,从78.08增加到CE的7,864,630.60倍.
- 基于MPS的cLR值在137种对对关系中的134种中较高;MPS的所有关系类别的平均cLR超过1,000个,包括第三级关系 (CE的平均cLR为3,717.31对47.61).
结论:
- 将基于MPS的基因型定型的DNA序列变异数据纳入其中,导致亲属分析的cLR值在统计学上显著增加.
- 在考虑序列级别的变化时,MPS技术大大提高了亲属关系确定能力,特别是在第二度和第三度关系中.
- 这些发现强调了MPS在法医亲属关系分析方面的巨大潜力,预计从更广泛的标记物类型和位置覆盖范围获得进一步的改进.
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