Balkan Journal of Medical Genetics

FREQUENCIES OF THE COMMON MEFV GENE MUTATIONS IN ADIYAMAN, SOUTHEAST ANATOLIA, TURKEY
Korkmaz DT1,*, Atak PG2, Çelik Ç3
*Corresponding Author: Deniz Taştemir Korkmaz, Ph.D., Vocational School of Health Services, Adıyaman University, TR-02040 Adıyaman, Turkey. Tel: +90-416-223-3800/4154. Fax: +90-416-223-2071. E-mail: deniz-tbio@hotmail.com
page: 67

INTRODUCTION

Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent fever attacks, serositis, arthritis and erythema. The severe complication in FMF is amyloidosis affected kidneys that resulted in renal failure. Familial Mediterranean fever is prevalent in Mediterranean Basin, affecting Jews, Armenians, Turks, Arabs and Italians [1-3]. Because of the ethnic diversity in Turkey, the rate of heterozygosity is very high, and the estimated prevalence of FMF and the carrier rate are reported as 1/1000 and 1:5, respectively [3]. Familial Mediterranean fever is caused by mutations in the MEFV gene that consists of 10 exons and is located on the short arm of chromosome 16p13.3 [4]. This gene encodes a 781 amino acid protein called pyrin (or marenostrin) that has a major role in the regulation of inflammation and apoptosis via interleukin 1â (IL-1â) processing [3,5]. Up to now, 281 mutations have been identified in the MEFV gene and 81 of these were identified in exon 10 [6]. Among these mutations, M694V, M680I, M694I and V726A were reported to be the most common, accounting for nearly 80.0% of all abnormal alleles in patients. In the present study, we aimed to determine the frequencies of the common MEFV gene mutations (M694V, M680I, M694I, V726A) in healthy individuals in Adıyaman, Southeast Anatolia, Turkey, and the carrier rate and mutation frequency of FMF according to these mutations.

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