Tang Hua, Choudhry Shweta, Mei Rui, Morgan Martin, Rodriguez-Cintron William, Burchard Esteban González, Risch Neil J
Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.
Am J Hum Genet. 2007 Sep;81(3):626-33. doi: 10.1086/520769. Epub 2007 Aug 1.
Recent studies have used dense markers to examine the human genome in ancestrally homogeneous populations for hallmarks of selection. No genomewide studies have focused on recently admixed groups--populations that have experienced admixing among continentally divided ancestral populations within the past 200-500 years. New World admixed populations are unique in that they represent the sudden confluence of geographically diverged genomes with novel environmental challenges. Here, we present a novel approach for studying selection by examining the genomewide distribution of ancestry in the genetically admixed Puerto Ricans. We find strong statistical evidence of recent selection in three chromosomal regions, including the human leukocyte antigen region on chromosome 6p, chromosome 8q, and chromosome 11q. Two of these regions harbor genes for olfactory receptors. Interestingly, all three regions exhibit deficiencies in the European-ancestry proportion.
最近的研究使用密集标记在祖先同质化的人群中检测人类基因组以寻找选择的标志。尚无全基因组研究聚焦于近期混合的群体——即在过去200至500年间经历了大陆分隔的祖先群体间混合的人群。新大陆的混合人群很独特，因为它们代表了地理上分化的基因组与新环境挑战的突然融合。在此，我们提出一种通过检测基因混合的波多黎各人全基因组中祖先的分布来研究选择的新方法。我们在三个染色体区域发现了近期选择的有力统计证据，包括6号染色体短臂上的人类白细胞抗原区域、8号染色体长臂和11号染色体长臂。其中两个区域含有嗅觉受体基因。有趣的是，所有这三个区域的欧洲祖先比例都存在不足。
