Study the presence of possible mutations caused HCM disease in exons 8, 9 and 30 of MYH7 gene in Chahar Mahal Va Bakhtyari Province

Hypertrophic cardiomyopathy (HCM) is a rare cardiac disorder which can result in sudden death in young people. Molecular studies have been showed that mutations in the beta-myosin heavy chain (MYH7) gene are one of the most common genetic causes of HCM. The aim of this research was to study exons 8, 9, and 30 of MYH7 gene for possible mutation in HCM patients from Chahar Mahal va Bakhtyari Province.
Material and In this descriptive-laboratory study, DNA was extracted from 27 blood samples by phenol-chloroform method. DNA samples were then used for PCR-SSCP analysis for amplification and identification of mutation. The Suspected cases with possibility of having mutation were sequenced and the results were observed by Chromas software.
7 suspected cases recognized by PCR_SSCP were sequenced with forward and reverse primers to verify the presence of mutation.
Mutations in these exons do not have a role in establishment of disease in the studied population. However, study greater number of HCM cases and other exons of this gene are recommended to find the relationship between gene and HCM and to gain necessary information for treatment and management of disease.