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Analysis of beta thalassemia mutations using the single strand conformation polymorphism (SSCP) technique
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Naser Pooladi1   , Mohammad Ali Hosseinpour Feizi 2, Mehdi Haghi3 , Parvin Azarfam4 , Abbasali Hosseinpour Feizi5 |
1- Azarbaijan University of Tarbiat moallem
2- Tabriz University , pourfeizi@eastp.ir
3- Islamic Azad University-Ahar Branch
4- Tabriz University
5- Tabriz University of Medical Science |
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Abstract: (18587 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 |
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| Keywords: Thalassemia, SSCP, β- globin gene. |
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Full-Text [PDF 688 kb]
(2699 Downloads)
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Type of Study: Original Research |
Subject:
General
Received: 2011/01/5 | Published: 2010/12/15
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