Familial Mediterranean fever gene mutation frequencies in a sample Turkish population.

OBJECTIVES Our knowledge about the frequencies of mutations in the Turkish population is based on the studies on the affected patients and hospital-based control groups. We aimed to determine the frequencies of MEFV gene mutations in a population-based field study in Turkey. METHODS Turkish citizens aged between 5 and 65 years were included in the study. Cities from seven regions of Turkey were studied. Blood samples were obtained from individuals who gave permission for laboratory experiments, and they were analysed for 10 MEFV gene mutations. RESULTS Among 500 participants, MEFV mutations were found in 74 (14.8%). Sixty four (12.8%), 7 (1.4%), and 3 (0.6%) participants were heterozygous, compound heterozygous, and homozygous, respectively. Among inhabitants with heterozygous mutations, the most common heterozygous mutations were E148Q/- and M694V/-. Sixteen participants were found to be heterozygous for M694V, 2 were compound heterozygous for M694V/E148Q, and one was homozygous for M694V/M694V mutation; in total, the frequency of M694V allele was 4% (n=20). Twenty-three (4.6%) individuals were heterozygous for common mutations (M694V, M680I, V726A). Total allelic frequency was 8.4%. CONCLUSIONS Our study, which describes the MEFV mutational spectrum and distribution in a healthy Turkish population, found a carrier rate that is much higher than expected.