使用具有低次要等位基因频率的 SNP 的大规模平行测序分析复杂 DNA 混合物。
Analysis of complex DNA mixtures using massively parallel sequencing of SNPs with low minor allele frequencies.
机构信息
Massachusetts Institute of Technology, Lincoln Laboratory, 244 Wood St., Lexington, MA 02421, United States.
Massachusetts Institute of Technology, Lincoln Laboratory, 244 Wood St., Lexington, MA 02421, United States.
出版信息
Forensic Sci Int Genet. 2020 May;46:102234. doi: 10.1016/j.fsigen.2020.102234. Epub 2020 Jan 17.
DNA mixtures from 3 or more contributors have proven difficult to analyze using the current state-of-the-art method of short-tandem repeat (STR) amplification followed by capillary electrophoresis (CE). Here we analyze samples from both laboratory-defined mixtures and complex multi-contributor touch samples using a single nucleotide polymorphism (SNP) panel comprised of 2311 low-minor-allele-frequency loci, combined with massively parallel sequencing (MPS). This approach demonstrates that as many as 10 people can be identified in touch samples using a threshold of -Log P(RMNE) of 6, and a detection rate of 18-94 % across 10 different materials using a threshold of -Log P(RMNE) of 2. Thirty-two false positives were observed in 100 touch samples.
使用目前基于短串联重复序列（STR）扩增和毛细管电泳（CE）的最先进方法，已证明从 3 个或更多供体的 DNA 混合物进行分析具有挑战性。在这里，我们使用包含 2311 个低次要等位基因频率位点的单核苷酸多态性（SNP）面板，结合大规模平行测序（MPS），对来自实验室定义的混合物和复杂多供体接触样本进行分析。该方法表明，使用 -Log P(RMNE) 阈值为 6 的情况下，多达 10 人可以在接触样本中被识别，使用 -Log P(RMNE) 阈值为 2 的情况下，在 10 种不同材料中的检测率为 18-94%。在 100 个接触样本中观察到 32 个假阳性。
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