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

Soraya Heydari; Razieh Pourahmad Jaktaji; Arsalan Khaledifar; Morteza Hashemzadeh; Zeinab Amini; Soheila Badfar; Nariman Khosravi-Farsani

Zahedan Journal of Research in Medical Sciences

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

Author(s):

Soraya Heydari¹,

Razieh Pourahmad Jaktaji^1,*,

Arsalan Khaledifar²,

Morteza Hashemzadeh³,

Zeinab Amini⁴,

Soheila Badfar⁵,

Nariman Khosravi-Farsani⁶

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

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

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

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

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

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

Zahedan Journal of Research in Medical Sciences:Vol. 15, issue 10; e92818

Published online:Apr 27, 2013

Article type:Research Article

Received:Jun 26, 2012

Accepted:Oct 03, 2012

How to Cite:Soraya HeydariRazieh Pourahmad JaktajiArsalan KhaledifarMorteza HashemzadehZeinab AminiSoheila BadfarNariman Khosravi-Farsaniet al.Investigation of Mutations in Exons 12-15 MYH7 Gene in Hypertrophic Cardiomyopathie Patients Using PCR-SSCP Technique.Zahedan J Res Med Sci.15(10):e92818.

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.

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