title: Genetic analysis of MEFV gene pyrin domain in patients with Behçet's disease.
abstract: OBJECTIVE
  Behçet's disease (BD) is a systemic vasculitis with recurrent oral and genital ulcers and uveitis. MEFV gene, which is the main factor in familial Mediterranean fever (FMF), is also reported to be a susceptibility gene for BD. The pyrin domain of MEFV gene is a member of death-domain superfamily and has been proposed to regulate inflammatory signaling in myeloid cells. This study was designed to determine if mutations in pyrin domain of MEFV gene are involved in BD.
  
  
  METHODS
  We analyzed the pyrin domain of MEFV gene in 54 Turkish patients with BD by PCR-analysis and direct sequencing.
  
  
  RESULTS
  Neither deletion or insertion mutations nor point mutations in pyrin domain were found in any patient.
  
  
  CONCLUSIONS
  Although pyrin gene mutations have been reported in patients with BD, pyrin domain is not mutated. However, alterations in other regions of MEFV gene and interaction between pyrin domains are needed to be further investigated.
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Zonguldak Karaelmas University, 67600 Zonguldak, Turkey.
authors.forename: Ahmet
authors.initials: A
authors.lastname: Dursun
authors.forename: Hatice Gul
authors.initials: HG
authors.lastname: Durakbasi-Dursun
authors.forename: Ayse Gul
authors.initials: AG
authors.lastname: Zamani
authors.forename: Zerrin Gülin
authors.initials: ZG
authors.lastname: Gulbahar
authors.forename: Recep
authors.initials: R
authors.lastname: Dursun
authors.forename: Cengiz
authors.initials: C
authors.lastname: Yakicier
mesh_terms: D001528:Behcet Syndrome / Q000235:genetics*; D003598:Cytoskeletal Proteins / Q000737:chemistry / Q000235:genetics* / Q000502:physiology*; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D017434:Protein Structure, Tertiary; D000071198:Pyrin; D017422:Sequence Analysis, DNA
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin