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建立一个“法医生物银行”,以建立瑞士全面的遗传频率数据。

A "forensic biobank" to establish comprehensive genetic frequency data for Switzerland.

机构信息

Institute of Forensic Medicine, Forensic Molecular Biology Dpt., University of Bern, Sulgenauweg 40, 3007, Bern, Switzerland.

出版信息

Forensic Sci Int Genet. 2019 May;40:46-51. doi: 10.1016/j.fsigen.2019.02.004. Epub 2019 Feb 5.

Abstract

Comparatively little knowledge is available about the genetic structure of the Swiss population. Missing allele frequency data for some markers frequently used in forensics and paternity / kinship testing is just one practical aspect of this lack of genetic data. Therefore, in an attempt to fill this gap, we established a biobank of 1198 Swiss blood samples, systematically collected throughout the whole country. For the first time, this collection contains a population sample from the southernmost Italian speaking canton of Ticino. In this article, we share the experiences gained with the sampling procedure. Furthermore we present autosomal allele frequencies for 23 loci and a concordance check between the two multiplex PCR kits GlobalFiler and PowerPlex Fusion 6C. Statistical evaluation of the data revealed only small genetic differences among regional subpopulations and among language subgroups. The autosomal allele frequencies can therefore be used for forensics and paternity / kinship testing as a valid nationwide dataset. Additionally, the informative value of the three Y-STR markers included in the PowerPlex Fusion 6C kit was assessed. We could demonstrate that the 3-loci-haplotype can be very informative, with an average haplotype frequency in the relevant Western European metapopulation of 0.026.

摘要

关于瑞士人群的遗传结构,我们的了解相对较少。一些在法医学和亲子/亲属关系鉴定中经常使用的标记的缺失等位基因频率数据,只是缺乏遗传数据的一个实际方面。因此,为了填补这一空白,我们建立了一个由 1198 份瑞士血液样本组成的生物库,这些样本是在全国范围内系统收集的。这是第一次从意大利语区南部的提契诺州收集到人口样本。在本文中,我们分享了采样过程中获得的经验。此外,我们还介绍了 23 个基因座的常染色体等位基因频率,并对 GlobalFiler 和 PowerPlex Fusion 6C 两种多重 PCR 试剂盒进行了一致性检查。数据的统计评估仅显示了区域亚群和语言亚组之间的微小遗传差异。因此,常染色体等位基因频率可作为法医学和亲子/亲属关系鉴定的有效全国性数据集。此外,还评估了 PowerPlex Fusion 6C 试剂盒中包含的三个 Y-STR 标记的信息价值。我们可以证明,3 个基因座单倍型可以非常有信息量,在相关的西欧混合人群中,平均单倍型频率为 0.026。

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