Investigation of Mutations in Exons 12-15 MYH7 Gene in Hypertrophic Cardiomyopathie Patients Using PCR-SSCP Technique

AUTHORS

Soraya Heydari 1 , Razieh Pourahmad Jaktaji 1 , * , Arsalan Khaledifar 2 , Morteza Hashemzadeh 3 , Zeinab Amini 4 , Soheila Badfar 5 , Nariman Khosravi-Farsani 6

1 Department of Genetics, School of Basic Sciences, Shahr-e-Kord University, Shahr-e-Kord, Iran

2 Department of Cardiology, Shahr-e-Kord University of Medical Sciences, Shahr-e-Kord, Iran

3 Cellular and Molecular Research Center, Shahr-e-Kord University of Medical Sciences, Shahr-e-Kord, Iran

4 Department of Genetics, Branch Science and Research, Islamic Azad University, Tehran, Iran

5 Echocardiography Unit, Hajar Hospital of Shahr-e-Kord, Shahr-e-Kord, Iran

6 Department of Biology, School of Basic Sciences, Tarbiat Moalem University, Tehran, Iran

How to Cite: Heydari S, Pourahmad Jaktaji R, Khaledifar A, Hashemzadeh M, Amini Z, et al. Investigation of Mutations in Exons 12-15 MYH7 Gene in Hypertrophic Cardiomyopathie Patients Using PCR-SSCP Technique, Zahedan J Res Med Sci. 2013 ; 15(10):e92818.

ARTICLE INFORMATION

Zahedan Journal of Research in Medical Sciences: 15 (10); e92818
Published Online: April 27, 2013
Article Type: Research Article
Received: June 26, 2012
Revised: August 27, 2012
Accepted: October 03, 2012

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Abstract

Background : Hypertrophic cardiomyopathy (HCM) is the most common kind of Mendelian inherited heart disease, affects 0.2% of the global population. HCM is also the most common cause of sudden cardiac death in individuals younger than 35 years old. To date more than 900 individual mutations has been identified in over 20 genes, such as MYH7, MYBPC3, and TNNT2. Interestingly, most of these genes encode sarcomeric proteins. In the present study, we investigated the possible presence of mutation in exons 12-15 MYH7 gene, which has already been reported to accommodate some mutations, in 30 patients with HCM in Chaharmahal va Bakhtiyari province. 
Materials and Methods : DNA was extracted using standard phenol-chloroform method and then was used for amplification and gel electroploresis by PCR-SSCP procedure. Finally, the suspected cases were selected for the direct sequencing and the results were analyzed using chromas software.
Results : There is no mutation in these exons, but two polymorphisms including: 5811 C>T and 5845 G> were found in the exon 12 of 1 and 5 separate patients, respectively.
Conclusion : In this study with respect to none amino acid codon changes arisen from these polymorphisms, we concluded that mutations in these exons of MYH7 gene have a very low contribution in patients in this province and this is necessary to study other exons for better assessment. 

Keywords

HCM MYH7 Mutation PCR- SSCP

© 2013, Zahedan Journal of Research in Medical Sciences. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/) which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.

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