GULHANE MEDICAL JOURNAL 2017 , Vol 59 , Issue 1
MEFV gene mutation frequency and distribution of mutations in FMF patients: Analysis of a large group of patients from a single center
Deniz Torun1,Emre Tekgöz2,Haluk Kavuş1,Ali Öztuna1,Hatice Akar1,Muhammet Çınar2,Sedat Yılmaz2,Şefik Güran3,Yusuf Tunca1
1Gülhane Eğitim ve Araştırma Hastanesi, Tıbbi Genetik Ana Bilim Dalı, Ankara
2Gülhane Eğitim ve Araştırma Hastanesi, Romatoloji Bilim Dalı, Ankara
3Gülhane Tıp Fakültesi, Tıbbi Biyoloji Ana Bilim Dalı, Ankara
DOI : 10.5455/gulhane. 261519 Familial Mediterranean fever (FMF) is a non-infectious inflammatory disease characterized by recurrent episodes of fever and serositis. The clinical findings of FMF and the frequency of MEFV gene mutations vary according to ethnic groups and countries. In this study, we retrospectively analyzed the clinical findings and MEFV gene mutation frequencies of 1835 patients diagnosed with FMF. MEFV gene mutation analysis was performed using Real Time PCR method and the most common 6 mutations related to the disease were examined. 77.33% of the patients were male and 22.67% were female. M694V, M680I, E148Q, V726A, R761H, and M694I alleles were the most common mutations in the MEFV gene, while abdominal pain, joint pain, recurrent fever and joint swelling were the most common clinical manifestations. Keywords : Familial Mediterranean fever; MEFV; Mutation