查看文章

Familial Mediterranean fever (FMF) is an autosomal recessive disorder, caused by mutations in MEFV gene that encodes pyrin protein. In this study, we analyzed the most common five mutations in MEFV gene of 202 patients who were diagnosed formerly as FMF according to Tel-Hashomer criteria. The results of genetical analysis, clinical symptoms, and demographical aspects of those patients were evaluated retrospectively. Between the dates of February 2005 and March 2007, we analyzed five common MEFV gene mutations, which were M680I, M694V, M694I, V726A, and E148Q, in 202 patients by the PCR-ELISA method in our medical genetics laboratory. The most frequent mutation detected in our patients was M694V, and other mutations according to frequency were E148Q, M680I, V726A, and M694I. The detected mutations were homozygous in 45 of the patients (22.2 …