Investigation of the expression levels of MEFV gene in patients with frequent MEFV pathogenic variants in Kahramanmaras (Turkey).

The main objective of this study is to detect the variants in patients who were diagnosed with familial Mediterranean fever (FMF) according to Tel-Hashomer diagnostic criteria and investigated the relationship between genotype-phenotype and the gene expression levels of the Mediterranean fever (MEFV) gene. Variant screening was achieved by automated sanger sequencing, and expression levels of the MEFV gene were analyzed by quantitative real time polymerase chain reaction (RT-PCR). A total of 46 patients with MEFV gene pathogenic variants and 8 control individuals without any variants were enrolled in the study.

The rate and significance of type 1/type 2 serum amyloid A protein gene polymorphisms in patients with ankylosing spondylitis and amyloidosis.

A relationship between the presence of amyloidosis and SAA1 genotype has been shown in recent studies of (principally) familial Mediterranean fever patients. We found that the SAA1 rs12218 polymorphism was significantly more prevalent in ankylosing spondylitis patients with amyloidosis.

The report of sequence analysis on familial Mediterranean fever gene (MEFV) in South-eastern Mediterranean region (Kahramanmaraş) of Turkey.

Familial Mediterranean fever (FMF) is defined as an inherited and autosomal recessive disease. Many researches have been done about this subject, and we believe that it should be necessary to focus on phenotype-genotype correlation, especially novel mutation types. We aim to announce the results of FMF sequence analysis in Kahramanmaras/Turkey.