Purpose: 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.
Conclusion: 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.