We aimed to determine the frequency of mutations, carrier rates and the association of rare mutations with Familial Mediterranean Fever (FMF) symptoms. There is a need to evaluate as many different populations as possible in order to determine either specific rare mutations or a range of disease-associated mutations. The demographic data and FMF symptoms related to MEFV gene mutations were collected from 731 participants. Exon 2 and exon 10 of the MEFV gene were tested by DNA sequencing. The rare mutations were identified as: M694I (1.1%, n=12), E148V (0.6%, n=6), T267I (0.5%, n=5), L110P (0.2%, n=2), E167D (0.2%, n=2), K695R (0.1%, n=1) and an insertion G (Guanine) mutation (0.4%, n=4) at the 777th codon of exon 10. We used routine comprehensive detection systems such as Sanger sequence that can catch rare mutations, for definite diagnosis and treatment of FMF disease.
Keywords: DNA sequencing; FMF; MEFV; Rare mutation.
Copyright © 2015. Published by Elsevier B.V.