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., ...Daha Fazla

CLINICAL AND EXPERIMENTAL RHEUMATOLOGY, cilt.26, sa.4, 2008 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 26 Sayı: 4
  • Basım Tarihi: 2008
  • Dergi Adı: CLINICAL AND EXPERIMENTAL RHEUMATOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Anahtar Kelimeler: Familial Mediterranean fever, MEFV, 3'-untranslated region, Alu repeats, gene expression, MESSENGER-RNA, TURKISH POPULATION, MUTATION, FREQUENCY, PYRIN, PATHOGENESIS, INFLAMMATION, ASSOCIATION, EXPRESSION, DIAGNOSIS
  • İstanbul Üniversitesi Adresli: Evet

Özet

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.