Genetic analysis of MEFV gene pyrin domain in patients with Behçet's disease.
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.
Dursun
Ahmet
A
Department of Medical Genetics, Faculty of Medicine, Zonguldak Karaelmas University, 67600 Zonguldak, Turkey.
Durakbasi-Dursun
Hatice Gul
HG
Zamani
Ayse Gul
AG
Gulbahar
Zerrin Gülin
ZG
Dursun
Recep
R
Yakicier
Cengiz
C
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
D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin