MEFV gene 3'-UTR Alu repeat polymorphisms in patients with familial Mediterranean fever


Uestek D., Ekmekci C., Oku B., Cosan F., Cakiris A. , Abaci N., ...More

CLINICAL AND EXPERIMENTAL RHEUMATOLOGY, vol.26, 2008 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 26 Issue: 4
  • Publication Date: 2008
  • Title of Journal : CLINICAL AND EXPERIMENTAL RHEUMATOLOGY

Abstract

Objective. Familial Mediterranean fever (FMF), an autosomal recessively inherited outoinflammatory disorder, is caused by missense mutations in the pyrin-encoding MEFV gene. The MEFV initiations can be detected in the majority of FMF patients. but there is an important proportion of patients with the FMF phenotype who carry a single or no coding region initiation. This study aimed to investigate the promoter region and 3'-UTR polymorphisms of the MEFV gene in a group of FMF patients with no coding region mutations. to identify variations with a possible role in the regulation of MEFV expression.