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  - Ruaño, 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.