Mutation frequency of Familial Mediterranean Fever and evidence for a highcarrier rate in the Turkish population

Familial Mediterranean Fever (FMF) is a recessive disorder characterised by episodes of fever and neutrophil-mediated serozal inflammation. The FMF ge ne (MEFV) was recently identified and four common mutations characterised. The aim of this study was to determine the carrier rate in the Turkish popu lation and the mutation frequency in the clinically diagnosed FMF patients. We found a high frequency of carriers in the healthy Turkish population (2 0%). The distribution of the five most common MEFV mutations among healthy individuals (M694V 3%, M6801 5%, V726A 2%, M6941 0% and E148Q 12%) was sign ificantly different (P < 0.005) from that found in patients (M694V 51.55%, M6801 9.22%, V726A 2.88%, M6941 0.44% and E148Q 3.55%).