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首页> 外文期刊>BMC Genomics >More comprehensive forensic genetic marker analyses for accurate human remains identification using massively parallel DNA sequencing
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More comprehensive forensic genetic marker analyses for accurate human remains identification using massively parallel DNA sequencing

机译：使用大规模平行DNA测序进行更全面的法医遗传标记分析，以准确鉴定遗骸

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Background Although the primary objective of forensic DNA analyses of unidentified human remains is positive identification, cases involving historical or archaeological skeletal remains often lack reference samples for comparison. Massively parallel sequencing (MPS) offers an opportunity to provide biometric data in such cases, and these cases provide valuable data on the feasibility of applying MPS for characterization of modern forensic casework samples. In this study, MPS was used to characterize 140-year-old human skeletal remains discovered at a historical site in Deadwood, South Dakota, United States. The remains were in an unmarked grave and there were no records or other metadata available regarding the identity of the individual. Due to the high throughput of MPS, a variety of biometric markers could be typed using a single sample. Results Using MPS and suitable forensic genetic markers, more relevant information could be obtained from a limited quantity and quality sample. Results were obtained for 25/26 Y-STRs, 34/34 Y SNPs, 166/166 ancestry-informative SNPs, 24/24 phenotype-informative SNPs, 102/102 human identity SNPs, 27/29 autosomal STRs (plus amelogenin), and 4/8 X-STRs (as well as ten regions of mtDNA). The Y-chromosome (Y-STR, Y-SNP) and mtDNA profiles of the unidentified skeletal remains are consistent with the R1b and H1 haplogroups, respectively. Both of these haplogroups are the most common haplogroups in Western Europe. Ancestry-informative SNP analysis also supported European ancestry. The genetic results are consistent with anthropological findings that the remains belong to a male of European ancestry (Caucasian). Phenotype-informative SNP data provided strong support that the individual had light red hair and brown eyes. Conclusions This study is among the first to genetically characterize historical human remains with forensic genetic marker kits specifically designed for MPS. The outcome demonstrates that substantially more genetic information can be obtained from the same initial quantities of DNA as that of current CE-based analyses.
机译：背景技术尽管对未鉴定的人类遗体进行法医DNA分析的主要目的是阳性鉴定，但涉及历史或考古骨骼遗体的病例通常缺乏用于比较的参考样品。大规模并行测序（MPS）在这种情况下提供了提供生物统计数据的机会，这些案例提供了有关应用MPS表征现代法医案件样本的可行性的宝贵数据。在这项研究中，MPS用于表征在美国南达科他州戴德伍德的一个历史遗址中发现的140岁人类骨骼遗骸。遗体在一个没有标记的坟墓中，没有关于个人身份的记录或其他元数据。由于MPS的高通量，可以使用单个样品来键入多种生物特征标记。结果使用MPS和适当的法医遗传标记，可以从数量有限且质量合格的样品中获得更多相关信息。获得了25/26个Y-STR，34/34个Y SNP，166/166个祖先信息性SNP，24/24个表型信息性SNP，102/102个人身份SNP，27/29个常染色体STR（加上amelogenin）的结果，和4/8 X-STR（以及mtDNA的十个区域）。未鉴定的骨骼残留物的Y染色体（Y-STR，Y-SNP）和mtDNA谱分别与R1b和H1单倍型一致。这两个单倍群都是西欧最常见的单倍群。祖先资料丰富的SNP分析也支持欧洲血统。遗传结果与人类学发现一致，这些遗骸属于欧洲血统的男性（高加索人）。表型信息丰富的SNP数据为该个体浅红色的头发和棕色的眼睛提供了有力的支持。结论该研究是第一个使用专门为MPS设计的法医遗传标记试剂盒对历史遗骸进行遗传鉴定的研究。结果表明，从与当前基于CE的分析相同的初始DNA量中可以获得更多的遗传信息。

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