The Werner syndrome gene and global sequence variation

Citation
G. Passarino et al., The Werner syndrome gene and global sequence variation, GENOMICS, 71(1), 2001, pp. 118-122
Citations number
17
Categorie Soggetti
Molecular Biology & Genetics
Journal title
GENOMICS
ISSN journal
08887543 → ACNP
Volume
71
Issue
1
Year of publication
2001
Pages
118 - 122
Database
ISI
SICI code
0888-7543(20010101)71:1<118:TWSGAG>2.0.ZU;2-X
Abstract
mr, have identified a dense set of markers useful in association studies in volving the Werner syndrome (WRN) gene. The homozygotic disruption of the W RN 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 a ssociated with the WRN gene, a sample of 93 individuals representing all th e continents was analyzed by denaturing high-performance liquid chromatogra phy. 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 regi ons. (C) 2001 Academic Press.