Tillmar Andreas, Grandell Ida, Montelius Kerstin
Department of Forensic Genetics and Forensic Toxicology, National Board of Forensic Medicine, Linköping, Sweden.
Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Linköping University, Linköping, Sweden.
Forensic Sci Res. 2018 Oct 29;4(4):331-336. doi: 10.1080/20961790.2018.1509186. eCollection 2019.
Genetic profiling is a standard procedure for human identification, i.e. in criminal cases and mass disasters, and has been proven to be an important part in the process in the repatriation of victims to their relatives. In the event of a catastrophe whether it be a natural disaster, terror attack or accident, fatalities of many nationalities may be a consequence and international collaboration becomes necessary. Current DNA techniques used on a routine basis at forensic laboratories world-wide are very useful, and results reported from different labs are compared, making it possible to be matched in order to declare the identification of a victim. Statistical calculations of possibilities of a random match are achievable since population data from many parts of the world are available. However, decomposition and degradation of the remains are not uncommon in the aftermath of a catastrophe and hence it may be difficult to retrieve detailed DNA profiles from such samples. Massive parallel sequencing (MPS) is a technique capable of producing a vast amount of DNA sequence data in a high-through put manner, and panels of single nucleotide polymorphism (SNP) markers allow the amplification of small DNA fragments, often seen in compromised samples. Here, we report the results from a set of 10 samples from missing person identification cases, analyzed with an MPS based method comprising 131 SNP markers and compared with direct reference material or buccal swab samples collected from relatives of the deceased. We assess the weight of evidence of a match by statistical calculation. Furthermore, we compare results reported on different platforms using different SNP panels, and conclude that more work has to be done if results from missing person identification cases analyzed on MPS with SNP panels at different laboratories are to be fully reliable and thus comparable.
基因图谱分析是用于身份鉴定的标准程序，即在刑事案件和大规模灾难中，并且已被证明是将受害者遗体遣返给其亲属过程中的重要环节。在发生灾难时，无论是自然灾害、恐怖袭击还是事故，都可能导致许多不同国籍的人员死亡，因此国际合作变得必要。目前，全球法医实验室日常使用的DNA技术非常有用，不同实验室报告的结果可以进行比较，以便能够进行比对以确认受害者身份。由于可以获取来自世界许多地区的人口数据，因此可以实现随机匹配可能性的统计计算。然而，在灾难发生后，遗体的分解和降解并不罕见，因此可能难以从此类样本中获取详细的DNA图谱。大规模平行测序（MPS）是一种能够以高通量方式产生大量DNA序列数据的技术，单核苷酸多态性（SNP）标记面板可以扩增在受损样本中常见的小DNA片段。在此我们报告了一组来自失踪人员身份鉴定案件的10个样本的结果，这些样本采用基于MPS的方法进行分析，该方法包含131个SNP标记，并与从死者亲属收集的直接参考材料或口腔拭子样本进行比较。我们通过统计计算评估匹配证据的权重。此外，我们比较了使用不同SNP面板在不同平台上报告的结果，并得出结论，如果要使不同实验室使用SNP面板通过MPS分析的失踪人员身份鉴定案件的结果完全可靠并具有可比性，则还需要做更多的工作。
