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来自西班牙北部帕斯山谷一个人类隔离群体的整个线粒体DNA控制区的变异性。

Variability of the entire mitochondrial DNA control region in a human isolate from the Pas Valley (northern Spain).

作者信息

Cardoso Sergio, Zarrabeitia María T, Valverde Laura, Odriozola Adrian, Alfonso-Sánchez Miguel Á, de Pancorbo Marian M

机构信息

Centro de Investigación y Estudios Avanzados Lucio Lascaray, Universidad del País Vasco, Vitoria-Gasteiz, Spain.

出版信息

J Forensic Sci. 2010 Sep;55(5):1196-201. doi: 10.1111/j.1556-4029.2010.01440.x.

Abstract

In this study, we analyzed the entire mtDNA control region in 61 unrelated individuals from the Pas Valley (Cantabria), a human isolate from northern Spain, to evaluate the suitability of this analysis to increase the power of discrimination of this locus for forensic purposes in human isolates. Low values obtained for the diversity parameters confirmed the relative isolation of this human group. The main findings of this study indicated that even the analysis of the entire mtDNA control region may have important limitations for use in forensic casework when dealing with human isolates: none of the 44 individuals who exhibited identical HVI-HVII haplotypes could be further differentiated by analysis of segment HVIII. Nevertheless, analysis of the entire mtDNA control region proved to be useful to determine the ancestry of the samples examined, by contributing to the confirmation, and, on occasion, even to the refinement of the haplogroup assignment.

摘要

在本研究中,我们分析了来自西班牙北部人类隔离群帕斯山谷(坎塔布里亚)的61名无亲缘关系个体的整个线粒体DNA(mtDNA)控制区,以评估该分析方法在增强此基因座鉴别力用于人类隔离群法医鉴定目的方面的适用性。多样性参数的低值证实了该人类群体的相对隔离状态。本研究的主要发现表明,在处理人类隔离群时,即便对整个mtDNA控制区进行分析,在法医案件工作中可能也存在重要局限性:44名具有相同HVI - HVII单倍型的个体中,没有一个能通过分析H VIII区段进一步区分。然而,事实证明,对整个mtDNA控制区进行分析有助于确认,有时甚至能细化单倍群归属,从而确定所检测样本的祖先。

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