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2009, Cilt 7, Sayı 3, Sayfa(lar) 081-086
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Frequently Seen Mutations in MEFV Gene in the FMF Diseases in Tokat Region
Şemsettin Şahin1, Hüseyin Özyurt1, Ali Akbaş1, Oğuzhan Şaylan1, İsmail Benli1, Leyla Aydoğan1, Beytullah Yıldırım2, Resul Yılmaz3
1Gaziosmanpaşa Üniversitesi Tıp Fakültesi, Tıbbi Biyokimya Anabilim Dalı, Tokat
2Gaziosmanpaşa Üniversitesi Tıp Fakültesi, Dahiliye Anabilim Dalı, Tokat
3Gaziosmanpaşa Üniversitesi Tıp Fakültesi, Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Tokat
Keywords: Familial Mediterranean Fever, MEFV gene, Mutation analysis

Objective: F amilial Mediterranean Fever (FMF) is an autosomal recessive disease and clinically charecterized by periodic abdominal pain, fever, arthralgia/arthritis and skin lesions. The prevalance of FMF is higher in Turks, Armenians, Arabs and Sephardic Jews. Wide variety of mutations have been described in pyrin gene which is known to be responsible from FMF. In this study, 12 most frequent mutations in pyrin gene (E148Q, P369S, F479L, M680I(G/C), M680I(G/A), 1692del, M694V, M694I, K695R, V726A, A744S ve R761H) have been screened in the patients prediagnosed as FMF.

Material and Methods: Detection of mutations in pyrin gene was carried out by using Vienna Lab FMF StripAssayTM striped mutations screening kit. Strip mutation analyze technique is a method that can determine the multiple mutations on genes associated with some diseases such as Cardiovascular disease (CVD), FMF, Coeliac Disease.

Results: In this study 929 patient who attended to our clinic with periodic abdominal pain, fever and arthralgia/arthritis were included. 375 of these patients were children and 554 of them were adult. As a result, in 432 patients (46.5%) heterozygous/homozygous mutations have been detected. In 233 patients mutation M694V (45 number homozygous), in 88 patients mutation M680I (G/C) (7 patient homozygous), in 90 patients mutation E148Q (1 patient homozygous), in 49 patients mutation V726A (1 patient homozygous), in 21 patients mutation R761H (1 patient homozygous) has been observed. 94 of patients had 2 mutations and 2 of patients had 3 mutations.

Conclusion: As a result In Tokat region M694V mutation has been detected in most of the cases as reported from other studies in Turkish population. In 46,5% of all patients at least one mutation has been detected.


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