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Investigation of Familial Mediterrenean Fever (MEFV) Gene Expressions in Frequent Mutations
  • Eda Ganiyusufoglu,
  • Hasan Dağlı,
  • Metin Kılınç
Eda Ganiyusufoglu
Kahramanmaras Sutcu Imam University
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Hasan Dağlı
Gazi University Faculty of Medicine
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Metin Kılınç
Kahramanmaras Sutcu Imam University
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Abstract

In this study, aim was to detect the mutations in the patients who were diagnosed with Familial Mediterranean Fever (FMF), according to Tel-Hashomer diagnostic criteria by gene sequencing and to determine the gene expression levels in the patients with a mutation by Real-Time PCR methods. For this purpose, we studied 47 patients with MEFV gene mutation and 8 control individuals without mutation and investigated the relationship between genotype-phenotype and the gene expression levels. At the end of the study, the most common mutations; in heterozygote genotype were R202Q, E148Q and M680I; in compound heterozygote genotype were M694V/R202Q and R202Q/E148Q; in complex heterozygote genotype were R202Q/M694V/M680I and R202Q/M694V/V726A; in homozygote genotype M680I/M680I; and in compound homozygote genotype were M694V/M694V+R202Q/R202Q. The expression levels of the gene in patients with mutations in the MEFV gene was lower than healthy control groups. It was also revealed that the decline in the gene expression seen in the patients with any mutation co-existed with R202Q was found to be significant. As a result, it was found that there was a relationship between the genotype and gene expression level and the level of gene expression and clinical symptoms were inversely correlated.