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

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.