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:: Volume 15, Issue 10 (Basic Science Issue - October 2013) ::
ZJRMS 2013, 15(10): 16-20 Back to browse issues page
Investigation of Mutations in Exons 12-15 MYH7 Gene in Hypertrophic Cardiomyopathie Patients Using PCR-SSCP Technique
Soraya Heydari, Razieh Pourahmad , Arsalan Khaledifar, Morteza Hashemzadeh, Zeinab Amini, Soheila Badfar, Nariman Khosravi-Farsani
, Razieh_Jaktaji@yahoo.com
Abstract:   (9235 Views)
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
Full-Text [PDF 233 kb]   (1873 Downloads)    
Type of Study: Research | Subject: Genetics and Molecular Biology
* Corresponding Author Address: Department of Genetics, School of Basic Sciences, Shahr-e-Kord University, Shahr-e-Kord, Iran
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Heydari S, Pourahmad R, Khaledifar A, Hashemzadeh M, Amini Z, Badfar S et al . Investigation of Mutations in Exons 12-15 MYH7 Gene in Hypertrophic Cardiomyopathie Patients Using PCR-SSCP Technique. ZJRMS. 2013; 15 (10) :16-20
URL: http://zjrms.ir/article-1-2484-en.html

Volume 15, Issue 10 (Basic Science Issue - October 2013) Back to browse issues page
Zahedan Journal of Research in Medical Sciences
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