title: Prevalence of known mutations in the familial Mediterranean fever gene (MEFV) in various carrier screening populations.
abstract: OBJECTIVE
  To determine the carrier frequency of familial Mediterranean fever (FMF) mutations of individuals in three different US testing populations: Cystic fibrosis, Factor V Leiden, and Ashkenazi Jews.
  
  
  METHODS
  DNA samples from 1234 anonymous samples were screened for 12 FMF mutations using a laboratory-developed test.
  
  
  RESULTS
  Genotyping revealed carrier frequencies of 1:16, 1:46, and 1:8, respectively.
  
  
  CONCLUSIONS
  MEFV mutation frequency seems to correlate positively with Mediterranean influence of the tested population and the high overall carrier rate for MEFV mutations in the Factor V Leiden testing population (1:46) suggests that the disease may be under-diagnosed in the US population or that the mutant alleles have a low penetrance.
authors.affiliation: Quest Diagnostics Nichols Institute, San Juan Capistrano, California 92690, USA. mario.x.mikula@questdiagnostics.com
authors.forename: Mario
authors.initials: M
authors.lastname: Mikula
authors.forename: Arlene
authors.initials: A
authors.lastname: Buller
authors.forename: Weimin
authors.initials: W
authors.lastname: Sun
authors.forename: Charles M
authors.initials: CM
authors.lastname: Strom
mesh_terms: D003550:Cystic Fibrosis / Q000235:genetics; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005165:Factor V / Q000235:genetics; D010505:Familial Mediterranean Fever / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D005820:Genetic Testing; D014644:Genetic Variation; D006579:Heterozygote; D006801:Humans; D007585:Jews / Q000235:genetics; D019083:Mediterranean Region / Q000208:ethnology; D009154:Mutation; D019683:Penetrance; D000071198:Pyrin; D014481:United States / Q000453:epidemiology
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin; C095381:factor V Leiden; D005165:Factor V