Prevalence of known mutations in the familial Mediterranean fever gene (MEFV) in various carrier screening populations.

Abstract

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. DNA samples from 1234 anonymous samples were screened for 12 FMF mutations using a laboratory-developed test. Genotyping revealed carrier frequencies of 1:16, 1:46, and 1:8, respectively. 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.