title: [MEFV gene mutation spectrum in familial Mediterranean fever (FMF) : a single center study in the Aegean region of Turkey].
abstract: OBJECTIVE
  Familial Mediterranean fever (FMF), an autosomal recessive autoinflammatory disorder, is characterized by recurrent, self-limiting fever and serositis which is frequently seen in Mediterranean populations. In this study, we retrospectively evaluated the MEFV gene mutation distribution of 883 citizens of the Aegean region with preliminary diagnosis of FMF who were referred to the Tepecik Research and Education Hospital's Tissue Typing and Molecular Diagnostic Laboratory (Izmir, Turkey) between 2006 and 2009.
  
  
  METHODS
  The FMF Strip Assay® (ViennaLab Diagnostics, Vienna, Austria) was used to determine the 12 most common MEFV gene mutations in patients prediagnosed with FMF.
  
  
  RESULTS
  Allelic frequencies of the major mutations in the mutation positive groups, including M694V, E148Q, M680I(G>C), and V726A, accounted for 48.4, 16.5, 13.5, and 9.7%, respectively.
  
  
  CONCLUSIONS
  The M694V mutation was found to be the most common mutation among FMF patients in the Aegean region, which is in accordance with mutation studies reported from other regions of the country and different ethnic populations. An English full-text version of this article is available at SpringerLink as supplemental.
authors.affiliation: Ministry of Health, Department of Clinical Biochemistry, Tepecik Research Hospital, Gaziler Cad., Yenisehir, 35120, Izmir, Turkey.
authors.forename: I
authors.initials: I
authors.lastname: Coker
authors.forename: A
authors.initials: A
authors.lastname: Colak
authors.forename: I
authors.initials: I
authors.lastname: Yolcu
authors.forename: H
authors.initials: H
authors.lastname: Türkön
authors.forename: S M
authors.initials: SM
authors.lastname: Nalbantoglu
mesh_terms: D000483:Alleles; D003430:Cross-Sectional Studies; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D010505:Familial Mediterranean Fever / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics*; D006580:Genetic Carrier Screening; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D005828:Genetics, Population; D005838:Genotype; D006801:Humans; D008297:Male; D011237:Predictive Value of Tests; D000071198:Pyrin; D012189:Retrospective Studies; D014421:Turkey
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin