Study of the mutation M694V of familial Mediterranean fever in Jews.

Familial Mediterranean fever (FMF) is a recessively inherited disorder characterized by episodes of fever with abdominal pain, pleurisy, or arthritis. The familial Mediterranean fever gene, designated MEFV, was recently cloned, and the missense mutation M694V accounting for most of the patients with this disease was identified. The objective of the present study was to establish frequencies of the M694V mutation in three groups of Jews. The subjects studied were 381 Sephardi, 256 Ashkenazi, and 65 Oriental Jews, all male subjects, previously collected for an anthropological study, independent of their FMF status. The M694V mutation in the 702 samples was assessed by amplifying genomic DNA with the use of primers that selectively amplify the normal or altered DNA sequence of the M694V mutation, by the amplification refractory mutation system (ARMS). In our sample of Sephardi Jews, the frequency of the M694V mutation is elevated (10.9%), and this is also the case for Oriental Jews (9.2%). In our sample of Ashkenazis, the M694V allele frequency is very low (0.8%).