Department of Human and Molecular Genetics, Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Eur J Hum Genet. 2010 Mar;18(3):309-16. doi: 10.1038/ejhg.2009.180. Epub 2009 Oct 21.
The architecture of natural variation present in a contemporary population is a result of multiple population genetic forces, including population bottleneck and expansion, selection, drift, and admixture. We seek to untangle the contribution of admixture to genetic diversity on the Micronesian island of Kosrae. Toward this goal, we used a complete genetic approach by combining a dense genome-wide map of 100,000 single-nucleotide polymorphisms (SNPs) with data from uniparental markers from the mitochondrial genome and the nonrecombining portion of the Y chromosome. These markers were typed in approximately 3200 individuals from Kosrae, representing 80% of the adult population of the island. We developed novel software that uses SNP data to delineate ancestry for individual segments of the genome. Through this analysis, we determined that 39% of Kosraens have some European ancestry. However, the vast majority of admixed individuals (77%) have European alleles spanning less than 10% of their genomes. Data from uniparental markers show most of this admixture to be male, introduced in the late nineteenth century. Furthermore, pedigree analysis shows that the majority of European admixture on Kosrae is because of the contribution of one individual. This approach shows the benefit of combining information from autosomal and uniparental polymorphisms and provides new methodology for determining ancestry in a population.
自然变异的结构存在于当代群体中,是多种群体遗传力的结果,包括种群瓶颈和扩张、选择、漂变和混合。我们试图厘清混合对密克罗尼西亚科斯雷岛上遗传多样性的贡献。为此,我们采用了一种完整的遗传方法,将 10 万个单核苷酸多态性(SNP)的密集全基因组图谱与来自线粒体基因组和非重组 Y 染色体部分的单亲标记数据相结合。这些标记在科斯雷岛上约 3200 个人中进行了分型,代表了该岛成年人口的 80%。我们开发了一种新的软件,该软件使用 SNP 数据来描绘基因组个体片段的祖先。通过这种分析,我们确定 39%的科斯雷人有一些欧洲血统。然而,绝大多数混血个体(77%)的欧洲等位基因仅占其基因组的不到 10%。来自单亲标记的数据表明,这种混合主要是男性,在 19 世纪后期引入。此外,系谱分析表明,科斯雷岛上的大多数欧洲混合是由于一个人的贡献。这种方法展示了结合常染色体和单亲多态性信息的优势,并为确定群体中的祖先提供了新的方法。