investigation of mutation in Exon 27 and exon 29 of MYBPC3 gene by using PCR-SSCP/HA in cardiomyopathic hypertrophy patients in chahahrmahal va bakhtiari province

Hypertrophy cardiomyopathy (HCM) is the most common type of heart disease with monogenic inheritance distinguished by thickening of left ventricle, contractile dysfunction and potentially fatal arrhythmias. Great progress in clarifying the genetic basis of HCM obtained. It was identified more than 900 unique mutations in 20 genes. Mutations in the gene MYBPC3 (which encodes the cardiac Myosin binding protein C) are about 40% of clinical cases. This study aimed to investigate the presence of mutations in exons 27 and 29 of MYBPC3 gene in patients with hypertrophy cardiomyopathy in Chahar Mahal and Bakhtiari province.
30 probands of hypertrophy cardiomyopathy were selected from patients referred to cardiac clinic of the Shahrekord Medical University. To extract DNA from blood samples of patients we used standard phenol – chloroform protocol. The exons 27 and 29 were amplified by Polymerase Chain Reaction and were converted to single-stranded with Single Strand Conformation Polymorphism and they electrophoresed with double-stranded samples on polyacrylamide gels.
Extracted DNA was electrophoresed and the attraction ratio was examined and the outcomes indicate that the DNA extraction and quality of samples are respectable. By investigation of obtained results from SSCP/HA electrophorese in Polyacrylamide, no change was found in exons 27 and 29 of MYBPC3.
Any of the patients had no mutation in exons 27 and 29 gene MYBPC3. Based on the results of this study there is no mutation in exons 27 and 29 gene MYBPC3 of HCM patients with autosomal dominant inheritance. It concluded that exons 27 and 29 of MYBPC3 do not have any role to cause HCM in examined patients.