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在未识别的人类遗骸中对DNA量化指标和SNP测序性能进行大规模分析

Steven A Bates¹, Bruce Budowle², Morgan Johnson¹

¹Othram Inc., The Woodlands, TX, USA.

Forensic science international. Genetics

|February 26, 2026

概括

使用大规模并行测序 (MPS) 的法医DNA测试显示了识别人类遗骸的前景. 然而,目前的DNA量化指标无法从骨样本中可靠地预测单核酸多态 (SNP) 概况的完整性.

科学领域:

法医科学法医科学法医科学
遗传学是一个遗传学.
分子生物学分子生物学

背景情况:

基于大规模并行测序 (MPS) 的单核酸多态性 (SNP) 分析越来越多地用于法医DNA测试.
在骨样本中预测SNP概况完整性的DNA测序前指标的预测价值仍然在很大程度上未被检查.

研究的目的:

在法医基因组测序中评估骨类型,DNA量化指标和SNP调用率之间的关系.
为了确定常见的DNA指标是否可以从骨遗骸中预测SNP资料的完整性.

主要方法:

通过法医基因组测序分析了500个匿名的骨样本.
通过定量PCR (qPCR) 和度测量总DNA测量人类特异性DNA数量.
评估SNP呼叫率作为资料完整性的衡量标准,并将其与各种DNA指标和骨类型相关联.

主要成果:

在399个测序样本中,SNP呼叫率各不相同 (8%-91%),大多数超过50%.
内源人类DNA与总DNA (包括外源DNA) 的比率与呼叫率最强烈相关.
机器学习模型显示预测性能中等 (R2 = 0.47),表明目前的指标不足以进行可靠的预测.

结论:

基于MPS的SNP概况是有效的识别身份不明的人类遗骸 (UHRs),支持法医遗传谱系.
虽然骨类型影响样本向测序的进展,但它不会显著影响测序样本的呼叫率.
目前的DNA测序前定量指标提供了一些工作流的指导,但不能可靠地预测SNP在各种骨样本中的完整性.

关键词:

法医SNP测试试验法医SNP测试试验法医SNP测试法医学遗传谱系学法医学遗传谱系学大规模并行测序.身份不明的人类遗骸.

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