Prevalence of known mutations in the familial Mediterranean fever gene (MEFV) in various carrier screening populations.
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.
Mikula
Mario
M
Quest Diagnostics Nichols Institute, San Juan Capistrano, California 92690, USA. mario.x.mikula@questdiagnostics.com
Buller
Arlene
A
Sun
Weimin
W
Strom
Charles M
CM
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
D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin; C095381:factor V Leiden; D005165:Factor V