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基于商业 SNP 芯片子集的非裔美国人溯源信息标记面板。

Ancestry informative marker panels for African Americans based on subsets of commercially available SNP arrays.

机构信息

Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA.

出版信息

Genet Epidemiol. 2011 Jan;35(1):80-3. doi: 10.1002/gepi.20550.

Abstract

Admixture mapping is a widely used method for localizing disease genes in African Americans. Most current methods for inferring ancestry at each locus in the genome use a few thousand single nucleotide polymorphisms (SNPs) that are very different in frequency between West Africans and European Americans, and that are required to not be in linkage disequilibrium in the ancestral populations. Modern SNP arrays provide data on hundreds of thousands of SNPs per sample, and to use these to infer ancestry, using many of the standard methods, it is necessary to choose subsets of the SNPs for analysis. Here we present panels of about 4,300 ancestry informative markers (AIMs) that are subsets respectively of SNPs on the Illumina 1 M, Illumina 650, Illumina 610, Affymetrix 6.0 and Affymetrix 5.0 arrays. To validate the usefulness of these panels, we applied them to samples that are different from the ones used to select the SNPs. The panels provide about 80% of the maximum information about African or European ancestry, even with up to 10% missing data.

摘要

混合映射是一种广泛用于定位非裔美国人疾病基因的方法。目前大多数用于推断基因组中每个基因座的祖先的方法都使用了几千个单核苷酸多态性(SNP),这些 SNP 在西非人和欧洲裔美国人之间的频率差异很大,而且在祖先群体中不能处于连锁不平衡状态。现代 SNP 芯片为每个样本提供了数十万 SNP 的数据,为了使用这些数据来推断祖先,使用许多标准方法,有必要选择 SNP 的子集进行分析。在这里,我们提出了大约 4300 个遗传信息标记(AIM)的面板,它们分别是 Illumina 1 M、Illumina 650、Illumina 610、Affymetrix 6.0 和 Affymetrix 5.0 芯片上 SNP 的子集。为了验证这些面板的有用性,我们将它们应用于与用于选择 SNP 的样本不同的样本。即使缺失数据高达 10%,这些面板仍能提供约 80%的关于非洲或欧洲祖先的最大信息。

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