MEFV gene 3'-UTR Alu repeat polymorphisms in patients with familial Mediterranean fever
CLINICAL AND EXPERIMENTAL RHEUMATOLOGY, vol.26, no.4, 2008 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 26 Issue: 4
- Publication Date: 2008
- Journal Name: CLINICAL AND EXPERIMENTAL RHEUMATOLOGY
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Keywords: Familial Mediterranean fever, MEFV, 3'-untranslated region, Alu repeats, gene expression, MESSENGER-RNA, TURKISH POPULATION, MUTATION, FREQUENCY, PYRIN, PATHOGENESIS, INFLAMMATION, ASSOCIATION, EXPRESSION, DIAGNOSIS
- Istanbul University Affiliated: Yes
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.