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通过线粒体DNA单核苷酸多态性筛查鉴定西欧亚线粒体单倍群:2006 - 2007年EDNAP协作研究结果

Identification of West Eurasian mitochondrial haplogroups by mtDNA SNP screening: results of the 2006-2007 EDNAP collaborative exercise.

作者信息

Parson Walther, Fendt Liane, Ballard David, Børsting Claus, Brinkmann Bernd, Carracedo Angel, Carvalho Mónica, Coble Michael D, Real Francisco Corte, Desmyter Stijn, Dupuy Berit M, Harrison Cheryl, Hohoff Carsten, Just Rebecca, Krämer Tanja, Morling Niels, Salas Antonio, Schmitter Hermann, Schneider Peter M, Sonntag Marie-Luise, Vallone Peter M, Brandstätter Anita

机构信息

Institute of Legal Medicine, Innsbruck Medical University, Austria.

出版信息

Forensic Sci Int Genet. 2008 Jan;2(1):61-8. doi: 10.1016/j.fsigen.2007.08.007. Epub 2007 Sep 24.

DOI:10.1016/j.fsigen.2007.08.007
PMID:19083791
Abstract

The European DNA Profiling (EDNAP) Group performed a collaborative exercise on a mitochondrial (mt) DNA screening assay that targeted 16 nucleotide positions in the coding region and allowed for the discrimination of major west Eurasian mtDNA haplogroups. The purpose of the exercise was to evaluate the stability and reproducibility of the self-developed multiplex-PCR and multiplex-single base extension kit by blind-testing saliva and hair shaft samples provided by the organizing laboratory. The overall success rate in obtaining useful results was high given that some of the participating laboratories had no previous experience with the technology and/or mtDNA analysis. The results of this collaborative exercise stimulate the expansion of screening methods in forensic laboratories to increase efficiency and performance of mtDNA typing, and thus demonstrates that mtDNA SNP typing is a powerful tool for forensic casework analysis.

摘要

欧洲DNA分析专家组(EDNAP)针对一种线粒体(mt)DNA筛查检测方法开展了一项协作实验,该检测方法针对编码区的16个核苷酸位置,能够区分主要的西欧亚线粒体DNA单倍群。此次实验的目的是通过对组织实验室提供的唾液和毛发样本进行盲测,评估自行研发的多重聚合酶链反应(PCR)和多重单碱基延伸试剂盒的稳定性和可重复性。鉴于一些参与实验室此前没有该技术和/或线粒体DNA分析的经验,获得有用结果的总体成功率很高。这项协作实验的结果促使法医实验室扩大筛查方法,以提高线粒体DNA分型的效率和性能,从而证明线粒体DNA单核苷酸多态性(SNP)分型是法医案件分析的有力工具。

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引用本文的文献

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A rapid mtDNA assay of 22 SNPs in one multiplex reaction increases the power of forensic testing in European Caucasians.在一次多重反应中对22个单核苷酸多态性进行快速线粒体DNA检测,可提高欧洲高加索人群法医检测的效能。
Int J Legal Med. 2008 Nov;122(6):517-23. doi: 10.1007/s00414-008-0267-x. Epub 2008 Aug 19.