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:: Volume 15, Issue 3 (Scientific Journal of Kurdistan University of Medical Sciences 2010) ::
SJKU 2010, 15(3): 13-19 Back to browse issues page
Analysis of beta thalassemia mutations using the single strand conformation polymorphism (SSCP) technique
Naser Pooladi 1, Mohammad Ali Hosseinpour Feizi Dr * 2, Mehdi Haghi 3, Parvin Azarfam 4, Abbasali Hosseinpour Feizi Dr5
1- Azarbaijan University of Tarbiat moallem
2- Professor Tabriz University , pourfeizi@eastp.ir
3- Islamic Azad University-Ahar Branch
4- Tabriz University
5- Associate Profeessor Tabriz University of Medical Science
Abstract:   (13746 Views)
ABSTRACT Background and Aim: β-thalassemia (β-thal) is one of the most prevalent hereditary diseases in Iran. There are more than two million carriers of β-thal in Iran. Detection of the beta globin gene mutations is necessary for a definitive diagnostic and management plan such as prenatal diagnosis of β-thalassemia. In our country, the PCR-Amplification Refractory Mutation System (PCR-ARMS) has been frequently used for detection of beta globin gene mutations. Material and Methods: Here, we used the PCR-single strand conformation polymorphism (PCR-SSCP) assay for detection of mutations of beta globin gene. In the patients with confirmed mutations, we amplified 281base pairs containing exon of one of a beta globin gene by PCR. Based on SSCP technique 2.5 µl of the reaction products appeared in polyacryamide gel electrophoresis and the bands were visualized by silver staining. Seven mutations and one polymorphism were evaluated by PCR-SSCP assay. Results: The results of this study demonstrated that the patterns of mobility of single strands were different from each other and those of control sample. Conclusion: Our study showed the PCR-SSCP technique can meet the need for direct genomic sequencing of DNA and could be applied in the developing countries where financial resources are limited but genetic hemoglobin disorders are highly prevalent. Key words: Thalassemia, SSCP, β- globin gene. Conflict of Interest: Nill Received: June 12, 2010 Accepted: Nov 11, 2010
Keywords: Thalassemia, SSCP, β- globin gene.
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Type of Study: Research | Subject: General
Received: 2011/01/5
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Volume 15, Issue 3 (Scientific Journal of Kurdistan University of Medical Sciences 2010) Back to browse issues page
مجله علمی دانشگاه علوم پزشکی کردستان Scientific Journal of Kurdistan University of Medical Sciences
مجله علمی دانشگاه علوم پزشکی کردستان Scientific Journal of Kurdistan University of Medical Sciences
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