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Genomics ; 71(1): 118-22, 2001 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-11161804

RESUMO

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.


Assuntos
Variação Genética , Síndrome de Werner/genética , Alelos , Animais , Cromatografia Líquida de Alta Pressão , Mapeamento Cromossômico , Éxons , Genoma , Heterozigoto , Homozigoto , Humanos , Mutação de Sentido Incorreto , Pan troglodytes , Polimorfismo Genético , Polimorfismo de Nucleotídeo Único
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