MOLECULAR STUDY OF E148Q MUTATION IN EXON 2 OF MEFV GENE IN PATIENTS WITH PREMATURE CORONARY ARTERY DISEASE
Author(s):
Article Type:
Research/Original Article (دارای رتبه معتبر)
Abstract:
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.Keywords:
Language:
Persian
Published:
Journal of Medical Science Studies, Volume:30 Issue: 1, 2019
Pages:
1 to 7
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