geographical affinities of the hapmap samples地理的人类基因组单体型图样本上的相似之处.pdfVIP

Geographical Affinities of the HapMap Samples 1 1,2 1,3 4 1 1 Miao He , Jane Gitschier , Tatiana Zerjal , Peter de Knijff , Chris Tyler-Smith , Yali Xue * 1The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, United Kingdom, 2 Department of Medicine and Pediatrics, University of California San ´ ´ ´ ´ Francisco, San Francisco, California, United States of America, 3 Station de Genetique Vegetale, Ferme du Moulon, Gif-sur-Yvette, France, 4 Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands Abstract Background: The HapMap samples were collected for medical-genetic studies, but are also widely used in population- genetic and evolutionary investigations. Yet the ascertainment of the samples differs from most population-genetic studies which collect individuals who live in the same local region as their ancestors. What effects could this non-standard ascertainment have on the interpretation of HapMap results? Methodology/Principal Findings: We compared the HapMap samples with more conventionally-ascertained samples used in population- and forensic-genetic studies, including the HGDP-CEPH panel, making use of published genome-wide autosomal SNP data and Y-STR haplotypes, as well as producing new Y-STR data. We found that the HapMap samples were representative of their broad geographical regions of ancestry according to all tests applied. The YRI and JPT were indistinguishable from independent samples of Yoruba and Japanese in all ways investigated. However, both the CHB and