Elif Yeşilada, Serap Savacı, Şengül Yüksel, Gonca Gülbay, Gonca Otlu, Ebru Kaygusuzoğlu

Ailesel Akdeniz Ateşi (FMF) Düşünülen Olgularda MEFV Gen Mutasyonları

Ailesel Akdeniz ateşi (FMF), MEFV genindeki mutasyonların neden olduğu otozomal resesif bir hastalıktır. Bu gen, kromozom 16p13.3'da haritalanmıştır ve özellikle granülositlerde bulunan bir proteini (pirin) kodlamaktadır. Bu çalışmada FMF ön tanısı ile refere edilen 197 olguda MEFV geninde sıklıkla rastlandığı bildirilen E148Q, P369S, F479L, M680I (G/C), M680I (G/A), I692del, M694V, M694I, K695R, V726A, A744S ve R761H mutasyonları incelenmiştir. Çalışılan olguların 93'ünde MEFV gen mutasyonları gözlenmiştir (%47). Bunlar arasında, 15 hasta pirin mutasyonları için homozigot; 22 hasta bileşik heterozigot olarak belirlenirken 57 hastanın ise test edilen mutasyonlardan yalnızca birini taşıdığı bulunmuştur. Heterozigot veya homozigot hastalarda sıklıkla rastlanılan mutasyonlar sırası ile M694V (%31), M680I (%12) ve E148Q (%9)'dır ve bunları A744S (%4) ve V726A (%3) izlemektedir. P369S mutasyonu allellerin %2'sini oluştururken F479L, M694I, K695R ve R761H mutasyonlarının oldukça düşük frekanslarda olduğu belirlenmiştir. M680I (G/A) ve I692del mutasyonlarına ise bu çalışmada rastlanmamıştır. Anahtar kelimeler: Ailesel Akdeniz Ateşi (FMF), MEFV Geni, Mutasyon

Anahtar Kelimeler:

Ailesel Akdeniz Ateşi (FMF), MEFV Geni, Mutasyon

MEFV Mutations in Cases with Familial Mediterranean Fever (FMF)

Familial Mediterranean fever is an autosomal recessive disorder caused by mutations in the FMF gene (MEFV). This gene has been mapped to chromosome 16p13.3 and generates a protein (pyrin) found exclusively in granulocytes. In this study, the most prevalent MEFV gene mutations (E148Q, P369S, F479L, M680I (G/C), M680I (G/A), I692del, M694V, M694I, K695R, V726A, A744S and R761H) were analyzed for 197 cases referred to our department with the diagnosis of FMF. Of these cases, 93 (47%) were identified with an MEFV gene mutation. Among those, 15 patients were found to be homozygote for pyrin mutations; 22 patients were with compound heterozygosity; 57 patients were found to carry only one of the screened mutations. The most frequent mutations in heterozygous or homozygous patients were M694V, M680I and E148Q, comprising 31%, 12% and 9% of the alleles, respectively. They were followed by A744S and V726A with rates of 4% and 3% of the alleles, respectively. The P369S mutation accounted for 2% of the alleles only and F479L, M694I, K695R and R761H mutations were rarely determined. M680I (G/A) and I692del mutations were not found in our patients. Key words: Familial Mediterranean Fever (FMF), MEFV gene, Mutation

Keywords:

Familial Mediterranean Fever (FMF), MEFV gene, Mutation,

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