PT - JOURNAL ARTICLE AU - Stephens, J. Claiborne AU - Schneider, Julie A. AU - Tanguay, Debra A. AU - Choi, Julie AU - Acharya, Tara AU - Stanley, Scott E. AU - Jiang, Ruhong AU - Messer, Chad J. AU - Chew, Anne AU - Han, Jin-Hua AU - Duan, Jicheng AU - Carr, Janet L. AU - Lee, Min Seob AU - Koshy, Beena AU - Kumar, A. Madan AU - Zhang, Ge AU - Newell, William R. AU - Windemuth, Andreas AU - Xu, Chuanbo AU - Kalbfleisch, Theodore S. AU - Shaner, Sandra L. AU - Arnold, Kevin AU - Schulz, Vincent AU - Drysdale, Connie M. AU - Nandabalan, Krishnan AU - Judson, Richard S. AU - RuaƱo, Gualberto AU - Vovis, Gerald F. TI - Haplotype Variation and Linkage Disequilibrium in 313 Human Genes AID - 10.1126/science.1059431 DP - 2001 Jul 20 TA - Science PG - 489--493 VI - 293 IP - 5529 4099 - http://science.sciencemag.org/content/293/5529/489.short 4100 - http://science.sciencemag.org/content/293/5529/489.full SO - Science2001 Jul 20; 293 AB - Variation within genes has important implications for all biological traits. We identified 3899 single nucleotide polymorphisms (SNPs) that were present within 313 genes from 82 unrelated individuals of diverse ancestry, and we organized the SNPs into 4304 different haplotypes. Each gene had several variable SNPs and haplotypes that were present in all populations, as well as a number that were population-specific. Pairs of SNPs exhibited variability in the degree of linkage disequilibrium that was a function of their location within a gene, distance from each other, population distribution, and population frequency. Haplotypes generally had more information content (heterozygosity) than did individual SNPs. Our analysis of the pattern of variation strongly supports the recent expansion of the human population.