ISSN: 1300-0292
İndekslendiği Dizinler: SCIENCE CITATION INDEX EXPANDED
CINAHL, Index Copernicus,
Chemical Abstracts (CA),
Excerpta Medica / EMBASE
Dil: Türkçe, İngilizce
İçerik: Orijinal Araştırma, Derleme, Editöre Mektup, Olgu Sunumu, Tıp Eğitimi, Tıbbi Kitap İncelemeleri
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ORIGINAL RESEARCH ARTICLES |
Direct Detection Of Common Mutations In The Familial Mediterranean Fever Gene By Using Pcr Methods
Hakkı TAŞTAN,a Cevat AYVALI, a İntizam Seyda DURGUNa
aDepartment of Biology, Science Faculty of Ankara University, ANKARA
Objective: The purpose of this study was to determine the frequencies of the most common Familial Mediterranean Fever (FMF) gene mutations (i.e. M694V, V726A, M680I, M694I) in Turkish FMF patients.
Material and Methods: Four common Familial Mediterranean Fever Gene (MEFV) mutations were investigated in 58 Turkish FMF patients presenting in the pediatrics nephrology departments of Ankara University and Dıskapi SSK hospital. Mutation detection was tested by the amplification refractory mutation system (ARMS) and PCR-Restriction Fragment Length Polymorphism (PCR-RFLP) analysis in this investigation.
Results: The distribution of the four common mutations among Turkish FMF patients were determined to be 67.24% for M694V, 15.51% for V726A, 12.06% for M680I, and 5.17% for M694I, respectively. M694V mutation was established to occur in high frequency in Turkish FMF patients (p< 0.05).
Conclusion: According to these results, the M694V mutation was the most common among Turkish FMF patients. The study also indicated that FMF is not rare in Turkey. The ARMS technique used in this study is a rapid, effective and accurate method for detecting these four common mutations in the familial Meditteranean fever gene.Keywords: Familial mediterranean fever, mutationTurkiye Klinikleri J Med Sci 2004, 24:445-449
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