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病例报告:HID-Ion AmpliSeq™ 祖先分析试剂盒在实际法医案件中的应用

Case report: on the use of the HID-Ion AmpliSeq™ Ancestry Panel in a real forensic case.

作者信息

Hollard C, Keyser C, Delabarde T, Gonzalez A, Vilela Lamego C, Zvénigorosky V, Ludes B

机构信息

Institute of Legal Medicine, Université de Strasbourg, 11 rue Humann, 67085, Strasbourg, France.

AMIS Laboratory, CNRS UMR 5288, Université de Toulouse, 37 Allées Jules Guesde, Toulouse, 31073, France.

出版信息

Int J Legal Med. 2017 Mar;131(2):351-358. doi: 10.1007/s00414-016-1425-1. Epub 2016 Jul 28.

Abstract

In the absence of any other conclusive forensic evidence, DNA profiling is the method of choice for body identification. This study focuses on the case of a carbonized corpse whose complete autosomal short tandem repeat (STR) profile could not lead to direct identification by the investigators. To assist in the progress of investigation, we endeavoured to determine the biogeographical origin and eye colour of the deceased individual. Along with Y chromosome and mitochondrial DNA analyses, we applied a next-generation sequencing (NGS) approach to the study of ancestry informative markers (AIMs) using the HID-Ion AmpliSeq™ Ancestry Panel launched by Thermo Fisher Scientific. This work gave us the opportunity to test this new technology in a real forensic case. Although this study highlights the benefits of such a combined approach, as it markedly improves the specificity of the biogeographical profile, it also underlines the need for the accurate characterization of a larger collection of reference populations and the necessity of caution in data interpretation.

摘要

在没有任何其他确凿法医证据的情况下,DNA 分型是尸体身份鉴定的首选方法。本研究聚焦于一具碳化尸体的案例,其完整的常染色体短串联重复序列(STR)图谱无法让调查人员直接进行身份鉴定。为协助调查进展,我们努力确定死者的生物地理起源和眼睛颜色。除了 Y 染色体和线粒体 DNA 分析外,我们还应用了新一代测序(NGS)方法,使用赛默飞世尔科技推出的 HID-Ion AmpliSeq™ 祖先分析试剂盒来研究祖先信息标记(AIM)。这项工作让我们有机会在真实的法医案例中测试这项新技术。尽管本研究突出了这种联合方法的益处,因为它显著提高了生物地理图谱的特异性,但它也强调了准确表征更多参考人群集合的必要性以及在数据解释时谨慎的必要性。

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