ANALYSIS OF BETA THALASSEMIA MUTATIONS USING THE SINGLE STRAND CONFORMATION POLYMORPHISM (SSCP) TECHNIQUE

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POULADI N.; HOSSEINPOUR FEIZI M.A.; HAGHI M.; AZARFAM P.; HOSSEINPOUR FEIZI A.A.

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Journal: SCIENTIFIC JOURNAL OF KURDISTAN UNIVERSITY OF MEDICAL SCIENCES Year:2010 | Volume:15 | Issue:3 (SERIAL NUMBER 57) Page(s): 13-19

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Title

ANALYSIS OF BETA THALASSEMIA MUTATIONS USING THE SINGLE STRAND CONFORMATION POLYMORPHISM (SSCP) TECHNIQUE

Author(s)

Keywords

THALASSEMIAQ3

SSCPQ3

β-GLOBIN GENEQ3

Abstract

Background and Aim: b-THALASSEMIA (b-thal) is one of the most prevalent hereditary diseases in Iran. There are more than two million carriers of b-thal in Iran. Detection of the beta globin gene mutations is necessary for a definitive diagnostic and management plan such as prenatal diagnosis of b-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 ml 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, b-globin gene.

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APA: Copy

POULADI, N., HOSSEINPOUR FEIZI, M.A., HAGHI, M., AZARFAM, P., & HOSSEINPOUR FEIZI, A.A.. (2010). ANALYSIS OF BETA THALASSEMIA MUTATIONS USING THE SINGLE STRAND CONFORMATION POLYMORPHISM (SSCP) TECHNIQUE. SCIENTIFIC JOURNAL OF KURDISTAN UNIVERSITY OF MEDICAL SCIENCES, 15(3 (SERIAL NUMBER 57)), 13-19. SID. https://sid.ir/paper/76352/en

Vancouver: Copy

POULADI N., HOSSEINPOUR FEIZI M.A., HAGHI M., AZARFAM P., HOSSEINPOUR FEIZI A.A.. ANALYSIS OF BETA THALASSEMIA MUTATIONS USING THE SINGLE STRAND CONFORMATION POLYMORPHISM (SSCP) TECHNIQUE. SCIENTIFIC JOURNAL OF KURDISTAN UNIVERSITY OF MEDICAL SCIENCES[Internet]. 2010;15(3 (SERIAL NUMBER 57)):13-19. Available from: https://sid.ir/paper/76352/en

IEEE: Copy

N. POULADI, M.A. HOSSEINPOUR FEIZI, M. HAGHI, P. AZARFAM, and A.A. HOSSEINPOUR FEIZI, “ANALYSIS OF BETA THALASSEMIA MUTATIONS USING THE SINGLE STRAND CONFORMATION POLYMORPHISM (SSCP) TECHNIQUE,” SCIENTIFIC JOURNAL OF KURDISTAN UNIVERSITY OF MEDICAL SCIENCES, vol. 15, no. 3 (SERIAL NUMBER 57), pp. 13–19, 2010, [Online]. Available: https://sid.ir/paper/76352/en

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