Blocks of Limited Haplotype Diversity Revealed by High-Resolution Scanning of Human Chromosome 21

作者：Nila Patil, Anthony J. Berno, David A. Hinds, Wade A. Barrett, Jigna M. Doshi, Coleen R. Hacker, Curtis R. Kautzer, Danny H. Lee, Claire Marjoribanks, David P. McDonough, Bich T. N. Nguyen, Michael C. Norris, John B. Sheehan, Naiping Shen, David L. Stern, Renee P. Stokowski, Daryl J. Thomas, Mark O. Trulson, Kanan R. Vyas, Kelly A. Frazer, Stephen P. A. Fodor, David Roxbee Cox · 发表于：Science · 年份：2001 · DOI：10.1126/science.1065573 · 被引用次数：1150 · 研究领域：Genetic Associations and Epidemiology、Genomic variations and chromosomal abnormalities、Genetic Mapping and Diversity in Plants and Animals

Global patterns of human DNA sequence variation (haplotypes) defined by common single nucleotide polymorphisms (SNPs) have important implications for identifying disease associations and human traits. We have used high-density oligonucleotide arrays, in combination with somatic cell genetics, to identify a large fraction of all common human chromosome 21 SNPs and to directly observe the haplotype structure defined by these SNPs. This structure reveals blocks of limited haplotype diversity in which more than 80% of a global human sample can typically be characterized by only three common haplotypes.