SNP and haplotype variation in the human genome.
Mutat Res
; 526(1-2): 53-61, 2003 May 15.
Article
em En
| MEDLINE
| ID: mdl-12714183
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.
Buscar no Google
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Haplótipos
/
DNA
/
Genoma Humano
/
Desequilíbrio de Ligação
/
Polimorfismo de Nucleotídeo Único
/
Mutação
Limite:
Humans
Idioma:
En
Revista:
Mutat Res
Ano de publicação:
2003
Tipo de documento:
Article
País de afiliação:
Estados Unidos