MOLECULAR STUDY OF E148Q MUTATION IN EXON 2 OF MEFV GENE IN PATIENTS WITH PREMATURE CORONARY ARTERY DISEASE

摘要

Background & Aims : Recent studies have shown that some of the MEFV gene mutations are common in patients with coronary artery disease. The present study was designed to investigate the presence or absence of E148Q mutation in exon 2 of MEFV gene in patients with premature coronary artery disease. Materials & Methods : In this study, 90 patients with coronary artery disease were voluntarily selected for molecular analysis of the E148Q mutation in the exon 2 of the MEFV gene. 2-3 ml of peripheral blood was collected in tubes containing EDTA. Genomic DNA was extracted using " salting out " method. RFLP-PCR was used to determine the E148Q mutation. Results : Of 90 patients studied, 7 (7.8%) patients were heterozygous for the E148Q mutation. In other words, of 180 chromosomes examined, 7 chromosomes (3.9%) had a mutated allele regarding E148Q mutation. In this study, the E148Q mutation was not found to be homozygote in tested samples. Conclusion : It can be concluded that E148Q mutation is not a risk factor for coronary artery disease in the tested group.