Large-scale characterization of public database SNPs causing non-synonymous changes in three ethnic groups.
Hum Genet
; 119(1-2): 75-83, 2006 Mar.
Article
em En
| MEDLINE
| ID: mdl-16391945
ABSTRACT
Single nucleotide polymorphisms (SNPs) that lead to non-synonymous changes in proteins may have functional effects and be subject to selection. Hence they are of particular interest in the study of genetic diseases. We have genotyped approximately 28,000 such SNPs in three ethnic populations (the HapMap plates) and ten primate species and analyzed these data for evidence of selection. We find SNPs predicted by PolyPhen to be damaging, have lower allele frequencies, and are particularly likely to be population-specific. We have also grouped SNPs by molecular function or biological process of the associated genes and find evidence that selection may be acting in concert on classes of genes.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Polimorfismo de Nucleotídeo Único
/
Bases de Dados Genéticas
/
População Negra
/
Povo Asiático
/
População Branca
Limite:
Animals
/
Humans
Idioma:
En
Revista:
Hum Genet
Ano de publicação:
2006
Tipo de documento:
Article
País de afiliação:
Estados Unidos