Significance of MEFV gene R202Q polymorphism in Turkish familial Mediterranean fever patients

YİĞİT S., KARAKUŞ N., TAŞLIYURT T., Kaya S. U., BOZKURT N., Kisacik B.

GENE, cilt.506, sa.1, ss.43-45, 2012 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 506 Sayı: 1
  • Basım Tarihi: 2012
  • Doi Numarası: 10.1016/j.gene.2012.06.074
  • Dergi Adı: GENE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.43-45
  • Anahtar Kelimeler: Familial Mediterranean fever (FMF), MEFV gene, R202Q, POPULATION-GENETICS, PYRIN, MUTATIONS, FREQUENCY
  • Ondokuz Mayıs Üniversitesi Adresli: Hayır

Özet

Objective: Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent attacks of fever and inflammation in the peritoneum, synovium, or pleura, accompanied by pain. The disease is associated with mutations in the Mediterranean fever (MEW) gene, which encodes for the pyrin protein. The aim of this study was to explore the frequency and clinical significance of the R202Q (c.605G>A) polymorphism in exon 2 of the MEFV gene in a cohort of Turkish patients with FMF.