The Werner syndrome gene and global sequence variation.
Genomics
; 71(1): 118-22, 2001 Jan 01.
Article
em En
| MEDLINE
| ID: mdl-11161804
ABSTRACT
We have identified a dense set of markers useful in association studies involving the Werner syndrome (WRN) gene. The homozygotic disruption of the WRN gene is the cause of Werner disease. In addition, this gene is likely to be involved in many complex traits, such as aging, or at least some of the traits and diseases related to age. To investigate the genetic variation associated with the WRN gene, a sample of 93 individuals representing all the continents was analyzed by denaturing high-performance liquid chromatography. A systematic survey of all 35 exons and flanking regions identified 58 single-nucleotide polymorphisms, 15 of which fall in the coding region and cause 11 missense mutations. The resulting global nucleotide diversity was 5.226 x 10(-4), with a slight difference between coding and noncoding regions.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Variação Genética
/
Síndrome de Werner
Limite:
Animals
/
Humans
Idioma:
En
Revista:
Genomics
Assunto da revista:
GENETICA
Ano de publicação:
2001
Tipo de documento:
Article
País de afiliação:
Estados Unidos