Common Mediterranean fever gene mutations in the Azeri Turkish population of Iran.

Familial Mediterranean fever (FMF) is an autosomal recessive disorder primarily affecting the Mediterranean populations. It is characterized by recurrent attacks of fever and inflammation of serosal membranes and gradual development of nephropathic amyloidosis. More than 70 disease-associated mutations have been identified in the Mediterranean fever gene (MEFV) responsible for FMF. The aim of this study was to determine the mutation carrier rate in the Iranian Azeri Turkish population. A cohort of 200 unrelated healthy individuals was screened for the five most common MEFV mutations (M694V, V726A, M680I, M694I, and E148Q) using the amplification refractory mutation system for the first four and by polymerase chain reaction-restriction-digestion testing for E148Q. Genotyping revealed that the carrier rate in the Azeri Turkish population was 25.5%, with E148Q being the most common mutation (11.5%) followed by V726A (1.75%). The remaining common mutations were not found in this cohort. Our data indicate that the FMF carrier rate and E148Q mutation frequency are high in the Iranian Azeri Turkish population.