Study the presence of mutations in exons 30 and 33 MYBPC3 gene in patients with hypertrophic cardiomyopathy by PCR-SSCP/HA method in Chaharmahal and Bakhtiari

摘要

Background and aims: HCM is a common form of hereditary heart disease with Mendelian inheritance that is a frequent cause of sudden cardiac death in the people younger than 35 years. In more than 50% of cases the cause of HCM identified as gene mutations. Mutations in the gene MYBPC3 (which encodes the cardiac Myosin binding protein C) are about 40% of clinical cases. This study was aimed to investigate the presence of mutations in exons 30 and 33 MYBPC3 gene in patients with hypertrophic cardiomyopathy in Chaharmahal and Bakhtiari.udMethods: 30 probands of hypertrophic cardiomyopathy were selected from patients referred to the cardiac clinic of the Shahrekord Medical University. DNA extraction was done by using of standard phenol - chloroform protocol from blood samples of patients. The exons 30 and 33 were amplified by PCR and were converted to single-stranded with SSCP and they electrophoresed with double-stranded sample on polyacrylamide gels.udResults: All of selected patients had hypertrophic cardiomyopathy with genetic cause. Qualities of extracted DNA were certified by electrophoresis and determination of their absorption ratio. By investigation of obtained results from SSCP/HA electrophorese in polyacrylamide, we did not find any change in exons 30 and 33.udConclusion: None of the patients had mutations in exons 30 and 33 gene MYBPC3. Based on the results of this study, there is no change in exons 30 and 33 of MYBPC3 in hypertrophic cardiomyopathy patients with autosomal dominant heritage. As the result, the mentioned exons do not consider as suspicious exons for prognosis and cause of HCM in Chaharmahal and Bakhtiari province.