Publication Date:
2001-07-14
Description:
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.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Stephens, J C -- Schneider, J A -- Tanguay, D A -- Choi, J -- Acharya, T -- Stanley, S E -- Jiang, R -- Messer, C J -- Chew, A -- Han, J H -- Duan, J -- Carr, J L -- Lee, M S -- Koshy, B -- Kumar, A M -- Zhang, G -- Newell, W R -- Windemuth, A -- Xu, C -- Kalbfleisch, T S -- Shaner, S L -- Arnold, K -- Schulz, V -- Drysdale, C M -- Nandabalan, K -- Judson, R S -- Ruano, G -- Vovis, G F -- New York, N.Y. -- Science. 2001 Jul 20;293(5529):489-93. Epub 2001 Jul 12.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Genaissance Pharmaceuticals, Inc., Five Science Park, New Haven, CT 06511, USA. c.stephens@genaissance.com〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/11452081" target="_blank"〉PubMed〈/a〉
Keywords:
African Continental Ancestry Group/genetics
;
Alleles
;
Animals
;
Asian Continental Ancestry Group/genetics
;
Dinucleoside Phosphates/genetics
;
European Continental Ancestry Group/genetics
;
Evolution, Molecular
;
Female
;
*Genetic Variation
;
*Haplotypes
;
Heterozygote
;
Hispanic Americans/genetics
;
Humans
;
*Linkage Disequilibrium
;
Male
;
Mutation
;
Pan troglodytes/genetics
;
*Polymorphism, Single Nucleotide
;
X Chromosome/genetics
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
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