Investigation of Familial Mediterrenean Fever (MEFV) Gene Expressions in
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.