DNA Commission of the International Society for Forensic Genetics: Revised and extended guidelines for mitochondrial DNA typing
DNA Commission of the International Society for Forensic Genetics: Revised and extended guidelines for mitochondrial DNA typing
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DOI：
10.1016/j.fsigen.2014.07.010
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发表时间：
2014-11-01
影响因子：
3.1
通讯作者：
Parsons, T. J.
中科院分区：
文献类型：
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作者：
Parson, W.;Gusmao, L.;Parsons, T. J.
国际法医遗传学学会（ISFG）的DNA委员会定期发表关于将DNA多态性应用于人类鉴定问题的指导方针和建议。2000年发表的先前建议涉及法医案件中线粒体DNA （mtDNA）的分析和解释。虽然早期建议中提出的基础仍然适用，但已经开发了线粒体序列的质量控制、比对和命名以及mtDNA参考种群数据库的建立的新方法。在这里，我们描述了这些发展，并讨论了它们在mtDNA案例工作和mtDNA参考种群数据库应用中的应用。虽然为法医案件工作生成mtDNA一直受到具体标准的指导，但现在已经确定，用于评估证据的统计权重的mtDNA参考人口数据需要相同质量的数据。因此，我们介绍了关于序列生成的指导方针，以及基于已知的全球mtDNA系统发育的质量控制措施，可用于确保尽可能高质量的种群数据。本文对单倍型比对和命名法进行了修订，并提供了系统发育比对作为可接受的标准。此外，异质在法医背景下的解释更新，并强调了对无偏概率估计的无比对数据库搜索的效用。最后，我们讨论了统计问题，并定义了mtDNA数据库搜索的最低标准。2014爱思唯尔爱尔兰有限公司版权所有。
The DNA Commission of the International Society of Forensic Genetics (ISFG) regularly publishes guidelines and recommendations concerning the application of DNA polymorphisms to the question of human identification. Previous recommendations published in 2000 addressed the analysis and interpretation of mitochondrial DNA (mtDNA) in forensic casework. While the foundations set forth in the earlier recommendations still apply, new approaches to the quality control, alignment and nomenclature of mitochondrial sequences, as well as the establishment of mtDNA reference population databases, have been developed. Here, we describe these developments and discuss their application to both mtDNA casework and mtDNA reference population databasing applications. While the generation of mtDNA for forensic casework has always been guided by specific standards, it is now well-established that data of the same quality are required for the mtDNA reference population data used to assess the statistical weight of the evidence. As a result, we introduce guidelines regarding sequence generation, as well as quality control measures based on the known worldwide mtDNA phylogeny, that can be applied to ensure the highest quality population data possible. For both casework and reference population databasing applications, the alignment and nomenclature of haplotypes is revised here and the phylogenetic alignment proffered as acceptable standard. In addition, the interpretation of heteroplasmy in the forensic context is updated, and the utility of alignment-free database searches for unbiased probability estimates is highlighted. Finally, we discuss statistical issues and define minimal standards for mtDNA database searches. (C) 2014 Elsevier Ireland Ltd. All rights reserved.