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通过高分辨率Y-STR单倍型分析关联来自德国中部的两个渊源深厚的谱系。

Relating two deep-rooted pedigrees from Central Germany by high-resolution Y-STR haplotyping.

作者信息

Kayser Manfred, Vermeulen Mark, Knoblauch Hans, Schuster Herbert, Krawczak Michael, Roewer Lutz

机构信息

Department of Forensic Molecular Biology, Erasmus MC-University Medical Center Rotterdam, The Netherlands.

出版信息

Forensic Sci Int Genet. 2007 Jun;1(2):125-8. doi: 10.1016/j.fsigen.2007.02.004. Epub 2007 Mar 13.

Abstract

Y-STR haplotyping is a powerful forensic and anthropological tool for identifying male lineages. We used high-resolution Y-STR haplotyping to evaluate the possibility of a blood relationship between two deep-rooted paternal genealogies with the same surname and originating from the same geographical region in Central Germany. One pedigree comprised 13 generations covering >450 years, the other comprised nine generations covering >300 years. Of the 68 loci tested, 64 (94%) consistently had the same allele in all males in the two pedigrees (except for some unambiguously sporadic mutations within pedigrees). Only four Y-STRs had a consistent allelic difference of exactly one repeat between the two pedigrees. These findings suggested that the two pedigrees were paternally related, and a conservative assessment taking average mutation rates and the available local haplotype frequencies for nine loci into account yielded a likelihood ratio of 8.2:1 in favour of this hypothesis. Our study thus highlights the power of Y-STR haplotyping to identify male lineages. It also shows that families can be linked to common ancestors on the basis of Y-STR data, even if these individuals lived several hundred years ago. However, the potential of Y-STR haplotyping could still not be fully exploited in our case due to a lack of appropriate population frequency data for all analysed Y-STR loci. This shortcoming makes a strong case for more comprehensive haplotype databases, including more samples and larger numbers of loci.

摘要

Y染色体短串联重复序列(Y-STR)单倍型分型是一种用于识别男性谱系的强大法医和人类学工具。我们使用高分辨率Y-STR单倍型分型来评估两个源自德国中部同一地理区域且姓氏相同的根深蒂固的父系谱系之间存在血缘关系的可能性。一个谱系涵盖13代,跨越450多年;另一个谱系涵盖9代,跨越300多年。在测试的68个位点中,64个(94%)在两个谱系的所有男性中始终具有相同的等位基因(谱系内一些明确的零星突变除外)。两个谱系之间只有四个Y-STR的等位基因差异始终恰好为一个重复单位。这些发现表明这两个谱系存在父系关联,考虑到平均突变率和九个位点的可用本地单倍型频率进行保守评估,得出支持这一假设的似然比为8.2:1。我们的研究因此突出了Y-STR单倍型分型在识别男性谱系方面的作用。它还表明,即使这些个体生活在几百年前,也可以根据Y-STR数据将家族与共同祖先联系起来。然而,由于缺乏所有分析的Y-STR位点的适当群体频率数据,在我们的案例中Y-STR单倍型分型的潜力仍未得到充分利用。这一缺陷有力地说明了需要更全面的单倍型数据库,包括更多样本和更多位点。

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