INVESTIGATION OF MUTATIONS IN EXONS 12-15 MYH7 GENE IN HYPERTROPHIC CARDIOMYOPATHIE PATIENTS USING PCR-SSCP TECHNIQUE

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HEYDARI SORAYA; POURAHMAD JAKTAJI RAZIEH; KHALEDIFAR ARSALAN; HASHEMZADEH MORTEZA; AMINI ZEINAB; BADFAR SOHEILA; KHOSRAVI FARSANI NARIMAN

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Journal: Zahedan Journal of Research in Medical Sciences Year:2013 | Volume:15 | Issue:10 Page(s): 16-20

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Title

INVESTIGATION OF MUTATIONS IN EXONS 12-15 MYH7 GENE IN HYPERTROPHIC CARDIOMYOPATHIE PATIENTS USING PCR-SSCP TECHNIQUE

Author(s)

Keywords

HCM

MYH7

MUTATION

PCR

SSCP

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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APA: Copy

HEYDARI, SORAYA, POURAHMAD JAKTAJI, RAZIEH, KHALEDIFAR, ARSALAN, HASHEMZADEH, MORTEZA, AMINI, ZEINAB, BADFAR, SOHEILA, & KHOSRAVI FARSANI, NARIMAN. (2013). INVESTIGATION OF MUTATIONS IN EXONS 12-15 MYH7 GENE IN HYPERTROPHIC CARDIOMYOPATHIE PATIENTS USING PCR-SSCP TECHNIQUE. ZAHEDAN JOURNAL OF RESEARCH IN MEDICAL SCIENCES (TABIB-E-SHARGH), 15(10), 16-20. SID. https://sid.ir/paper/612406/en

Vancouver: Copy

HEYDARI SORAYA, POURAHMAD JAKTAJI RAZIEH, KHALEDIFAR ARSALAN, HASHEMZADEH MORTEZA, AMINI ZEINAB, BADFAR SOHEILA, KHOSRAVI FARSANI NARIMAN. INVESTIGATION OF MUTATIONS IN EXONS 12-15 MYH7 GENE IN HYPERTROPHIC CARDIOMYOPATHIE PATIENTS USING PCR-SSCP TECHNIQUE. ZAHEDAN JOURNAL OF RESEARCH IN MEDICAL SCIENCES (TABIB-E-SHARGH)[Internet]. 2013;15(10):16-20. Available from: https://sid.ir/paper/612406/en

IEEE: Copy

SORAYA HEYDARI, RAZIEH POURAHMAD JAKTAJI, ARSALAN KHALEDIFAR, MORTEZA HASHEMZADEH, ZEINAB AMINI, SOHEILA BADFAR, and NARIMAN KHOSRAVI FARSANI, “INVESTIGATION OF MUTATIONS IN EXONS 12-15 MYH7 GENE IN HYPERTROPHIC CARDIOMYOPATHIE PATIENTS USING PCR-SSCP TECHNIQUE,” ZAHEDAN JOURNAL OF RESEARCH IN MEDICAL SCIENCES (TABIB-E-SHARGH), vol. 15, no. 10, pp. 16–20, 2013, [Online]. Available: https://sid.ir/paper/612406/en

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