title: SNP and haplotype variation in the human genome.
abstract: We have surveyed and summarized several aspects of DNA variability among humans. The variation described is the result of mutation followed by a combination of drift, migration and selection bringing the frequencies high enough to be observed. This paper describes what we have learned about how DNA variability differs among genes and populations. We sequenced functional regions of a set of 3950 genes. DNA was sampled from 82 unrelated humans: 20 African-Americans, 20 East Asians, 21 Caucasians, 18 Hispanic-Latinos and 3 Native Americans. Different aspects of variability showed a great deal of concordance. In particular, we studied patterns of single nucleotide polymorphism (SNP) allele and haplotype sharing among the four, large sample populations. We also examined how linkage disequilibrium (LD) between SNPs relates to physical distance in the different populations. It is clear from our findings that while many variants are common to all populations, many others have a more restricted distribution. Research that attempts to find genetic variants that explain phenotypic variants must be careful in their choice of study population.
authors.affiliation: Genaissance Pharmaceuticals, Five Science Park, New Haven, CT 065511, USA. b.salisbury@genaissance.com
authors.forename: Benjamin A
authors.initials: BA
authors.lastname: Salisbury
authors.forename: Manish
authors.initials: M
authors.lastname: Pungliya
authors.forename: Julie Y
authors.initials: JY
authors.lastname: Choi
authors.forename: Ruhong
authors.initials: R
authors.lastname: Jiang
authors.forename: Xiao Jenny
authors.initials: XJ
authors.lastname: Sun
authors.forename: J Claiborne
authors.initials: JC
authors.lastname: Stephens
mesh_terms: D000483:Alleles; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D005828:Genetics, Population; D015894:Genome, Human; D005838:Genotype; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D015810:Linkage Disequilibrium; D009154:Mutation / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D044469:Racial Groups / Q000235:genetics
chemical_list: D004247:DNA