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:: Volume 18, Number 5 (8-2015) ::
amuj 2015, 18(5): 59-67 Back to browse issues page
Investigation of Mutations in Exons 15 and 18 of MYBPC3 Gene in Hypertrophic Cardiomyopathy Patients
Behnaz Sadat Abedi, Zohreh Kiyani, Shahrbanoo Parchami, Morteza Hashemzade chaloshtari , Abbas Doosti
pHD, Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekotd, Iran , mchalesh@yahoo.com
Abstract:   (2431 Views)

Background: Hypertrophic cardiomyopathy (HCM) is a various collection of heart diseases with autosomal dominant inheritance 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, 40% of affected cases are associated with MYBPC3 gene. The aim of this study is to investigate the possible presence of mutation in 15 and 18 exons of MYBPC3 gene in patients with HCM in Chaharmahal Va Bakhtiyari province.

Materials and Methods: In this experimental study, 30 HCM patients were selected. DNA was extracted using standard phenol-chloroform method. Certain exons were amplified by PCR method. And then, SSCP and HA methods were run.

Results: Significant differences were observed between the positive control samples and other samples. However, there were no difference in studied exons or shift in the bands.

Conclusion: Mutations in the exons of MYBPC3 gene may cause the HCM disease, and change in other exons may be the causative agent in this geographical region and change in this studied exons may not have contributed to the HCM disease. However, it is necessary to study more patients for getting a better conclusion.

Keywords: Heteroduplex analysis, Hypertrophic cardiomyopathy, Myosin-binding protein C3 mutation, Single-stranded conformational polymorphism
Full-Text [PDF 707 kb]   (506 Downloads)    
Type of Study: Original Atricle | Subject: Basic Sciences
Received: 2015/01/19 | Accepted: 2015/03/11 | Published: 2015/07/22
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Abedi B S, Kiyani Z, Parchami S, Hashemzade chaloshtari M, Doosti A. Investigation of Mutations in Exons 15 and 18 of MYBPC3 Gene in Hypertrophic Cardiomyopathy Patients. amuj. 2015; 18 (5) :59-67
URL: http://amuj.arakmu.ac.ir/article-1-3441-en.html
Volume 18, Number 5 (8-2015) Back to browse issues page
مجله دانشگاه علوم پزشکی اراک Arak Medical University Journal
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