Study of MEFV gene R202Q polymorphism in Egyptian patients with familial Mediterranean fever

Familial Mediterranean fever (FMF) is a hereditary disorder characterized by recurrent attacks of fever and serositis. Several mutations in the MEFV gene have been associated with the disease. The aim of the present study is to investigate the frequency of the R202Q(605G A) polymorphism in exon 2 of the MEFV gene and its clinical significance in a cohort of Egyptian patients with FMF. The study included 55 FMF patients and 40 healthy controls. The polymorphism was tested using polymerase chain reaction (PCR) based restriction fragment length polymorphism (RFLP). The genotype and allele frequency was similar in patients and controls. No significant association was found between demographic and clinical characteristics of patients and R202Q genotype. Further studies covering wider geographical areas in Egypt are required to reveal the diagnostic relevance of this molecular marker in Egypt.