Human Genetics Program, Department of Pediatrics, New York University School of Medicine, New York, NY 10016, USA.
Hum Genet. 2012 Feb;131(2):251-63. doi: 10.1007/s00439-011-1072-z. Epub 2011 Jul 26.
Modern day Latin America resulted from the encounter of Europeans with the indigenous peoples of the Americas in 1492, followed by waves of migration from Europe and Africa. As a result, the genomic structure of present day Latin Americans was determined both by the genetic structure of the founding populations and the numbers of migrants from these different populations. Here, we analyzed DNA collected from two well-established communities in Colorado (33 unrelated individuals) and Ecuador (20 unrelated individuals) with a measurable prevalence of the BRCA1 c.185delAG and the GHR c.E180 mutations, respectively, using Affymetrix Genome-wide Human SNP 6.0 arrays to identify their ancestry. These mutations are thought to have been brought to these communities by Sephardic Jewish progenitors. Principal component analysis and clustering methods were employed to determine the genome-wide patterns of continental ancestry within both populations using single nucleotide polymorphisms, complemented by determination of Y-chromosomal and mitochondrial DNA haplotypes. When examining the presumed European component of these two communities, we demonstrate enrichment for Sephardic Jewish ancestry not only for these mutations, but also for other segments as well. Although comparison of both groups to a reference Hispanic/Latino population of Mexicans demonstrated proximity and similarity to other modern day communities derived from a European and Native American two-way admixture, identity-by-descent and Y-chromosome mapping demonstrated signatures of Sephardim in both communities. These findings are consistent with historical accounts of Jewish migration from the realms that comprise modern Spain and Portugal during the Age of Discovery. More importantly, they provide a rationale for the occurrence of mutations typically associated with the Jewish Diaspora in Latin American communities.
当代拉丁美洲是 1492 年欧洲人与美洲原住民相遇后,伴随着欧洲和非洲的移民浪潮而形成的。因此,当今拉丁美洲人的基因组结构既取决于创始人群的遗传结构,也取决于来自这些不同人群的移民数量。在这里,我们使用 Affymetrix Genome-wide Human SNP 6.0 阵列分析了来自科罗拉多州(33 个无关个体)和厄瓜多尔(20 个无关个体)两个成熟社区的 DNA,这些社区分别具有可衡量的 BRCA1 c.185delAG 和 GHR c.E180 突变的患病率,以确定其祖先。这些突变被认为是由塞法迪犹太人祖先带到这些社区的。使用主成分分析和聚类方法,我们利用单核苷酸多态性确定了这两个群体中全基因组的大陆祖先模式,辅以 Y 染色体和线粒体 DNA 单倍型的确定。在检查这两个社区中假定的欧洲成分时,我们不仅证明了这些突变,而且还证明了其他片段存在塞法迪犹太人祖先的富集。尽管将这两个群体与墨西哥的参考西班牙裔/拉丁裔群体进行比较,表明它们与其他源自欧洲和美洲原住民双向混合的现代社区具有接近性和相似性,但同源性和 Y 染色体作图表明了两个社区中塞法迪人的特征。这些发现与历史记载中的犹太人在发现时代从现代西班牙和葡萄牙的领地移民相符。更重要的是,它们为拉丁美洲社区中通常与犹太离散相关的突变的发生提供了依据。