Institute of Forensic and Anthropological Science, Seoul National University College of Medicine, Seoul, Korea.
Department of Forensic Medicine, Yonsei University College of Medicine, Seoul, Korea.
Electrophoresis. 2020 Oct;41(18-19):1600-1605. doi: 10.1002/elps.202000070. Epub 2020 Aug 16.
DNA analysis of degraded samples and low-copy number DNA derived from skeletal remains, one of the most challenging forensic tasks, is common in disaster victim identification and genetic analysis of historical materials. Massively parallel sequencing (MPS) is a useful technique for STR analysis that enables the sequencing of smaller amplicons compared with conventional capillary electrophoresis (CE), which is valuable for the analysis of degraded DNA. In this study, 92 samples of human skeletal remains (70+ years postmortem) were tested using an in-house MPS-STR system designed for the analysis of degraded DNA. Multiple intrinsic factors of DNA from skeletal remains that affect STR typing were assessed. The recovery of STR alleles was influenced more by DNA input amount for amplification rather than DNA degradation, which may be attributed from the high quantity and quality of libraries prepared for MPS run. In addition, the higher success rate of STR typing was achieved using the MPS-STR system compared with a commercial CE-STR system by providing smaller sized fragments for amplification. The results can provide constructive information for the analysis of degraded sample, and this MPS-STR system will contribute in forensic application with regard to skeletal remain sample investigation.
对骨骼遗骸中降解样本和低拷贝数 DNA 的 DNA 分析是最具挑战性的法医任务之一,常用于灾难遇难者身份识别和历史材料的遗传分析。大规模平行测序(MPS)是一种用于 STR 分析的有用技术,与传统毛细管电泳(CE)相比,它能够对较小的扩增子进行测序,这对于降解 DNA 的分析很有价值。在这项研究中,使用专为降解 DNA 分析而设计的内部 MPS-STR 系统测试了 92 个人骨遗骸样本(死后 70 多年)。评估了影响 STR 分型的骨骼遗骸中 DNA 的多种内在因素。与商业 CE-STR 系统相比,MPS-STR 系统通过为 MPS 运行准备更高质量和数量的文库,对 STR 等位基因的回收更多地受到扩增的 DNA 输入量而不是 DNA 降解的影响。此外,通过提供更小的扩增片段,MPS-STR 系统的 STR 分型成功率更高。这些结果可以为降解样本的分析提供有价值的信息,并且该 MPS-STR 系统将有助于骨骼遗骸样本调查的法医应用。