Investigation of mutations in exons 19-23 MYH7 gene in hypertrophic cardiomyopathy patients using PCR-SSCP/HA technique in Chaharmahal va Bakhtiari province

Hypertrophic cardiomyopathy (HCM) is the most prevalent heart disease، affecting 0. 2% of the global population. HCM is also the most common cause of sudden cardiac death in individuals younger than 35 years old. Approximately 35% of affected cases are associated with exons 8-24 of MYH7 gene. The aim of this study was to investigate the possible presence of mutation in exons 19-23 MYH7 gene in patients with HCM in Chaharmahal va Bakhtiyari province.

In this experimental study، 30 HCM patients referred to cardiology clinic in Shahrekord University of Medical Sciences were selected by simple sampling. DNA was extracted using standard phenol-chloroform method. Certain exons were amplified by PCR method and converted to single stranded DNAs by SSCP procedure and، along with double stranded DNAs، were electrophorized on polyacryl amid gel. Then، the suspected bands were sequenced and the results were analyzed using Chromas software.

In exons 20، 21، and 23، there was no change، but two mutations including R719W and R870H، were observed in exons 19 and 22 in 2 and 1 patient، respectively.

Because these changes of exons 19 and 20 result in amino acid changes in beta myosin، the mutations of MYH7 gene in these exons have a significant role in patients in this province. However، it is necessary to study more patients for a better conclusion.