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法医学中DNA混合物的分离/提取、检测及解读(综述)

Separation/extraction, detection, and interpretation of DNA mixtures in forensic science (review).

作者信息

Tao Ruiyang, Wang Shouyu, Zhang Jiashuo, Zhang Jingyi, Yang Zihao, Sheng Xiang, Hou Yiping, Zhang Suhua, Li Chengtao

机构信息

Institute of Forensic Medicine, West China School of Basic Medical Sciences & Forensic Medicine, Sichuan University, Chengdu, 610041, People's Republic of China.

Shanghai Key Laboratory of Forensic Medicine, Shanghai Forensic Service Platform, Ministry of Justice, Academy of Forensic Sciences, Shanghai, 200063, People's Republic of China.

出版信息

Int J Legal Med. 2018 Sep;132(5):1247-1261. doi: 10.1007/s00414-018-1862-0. Epub 2018 May 25.

Abstract

Interpreting mixed DNA samples containing material from multiple contributors has long been considered a major challenge in forensic casework, especially when encountering low-template DNA (LT-DNA) or high-order mixtures that may involve missing alleles (dropout) and unrelated alleles (drop-in), among others. In the last decades, extraordinary progress has been made in the analysis of mixed DNA samples, which has led to increasing attention to this research field. The advent of new methods for the separation and extraction of DNA from mixtures, novel or jointly applied genetic markers for detection and reliable interpretation approaches for estimating the weight of evidence, as well as the powerful massively parallel sequencing (MPS) technology, has greatly extended the range of mixed samples that can be correctly analyzed. Here, we summarized the investigative approaches and progress in the field of forensic DNA mixture analysis, hoping to provide some assistance to forensic practitioners and to promote further development involving this issue.

摘要

长期以来,解读包含多个贡献者材料的混合DNA样本一直被视为法医案件工作中的一项重大挑战,尤其是在遇到低模板DNA(LT-DNA)或高阶混合物时,这些混合物可能涉及等位基因缺失(遗漏)和无关等位基因(插入)等情况。在过去几十年中,混合DNA样本分析取得了非凡进展,这使得该研究领域受到越来越多的关注。用于从混合物中分离和提取DNA的新方法、用于检测的新型或联合应用的遗传标记、用于评估证据权重的可靠解释方法以及强大的大规模平行测序(MPS)技术的出现,极大地扩展了能够被正确分析的混合样本范围。在此,我们总结了法医DNA混合物分析领域的调查方法和进展,希望能为法医从业者提供一些帮助,并推动涉及此问题的进一步发展。

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