Detection of eight common β-globin gene mutation in thalassemia major patients using real time polymerase chain reaction (PCR)-high resolution melting and EvaGreen™ dye
The aim of the present study was to determine the phenotype and genotype frequency of the most common β-globin mutations among the thalassemia major (TM) patients, using high-resolution melting (HRM) curve analysis as a novel, reliable and rapid scanning method. In this descriptive-analytical study,...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Academic Journals
2012
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| Online Access: | http://psasir.upm.edu.my/id/eprint/24710/1/24710.pdf |
| _version_ | 1825925627455209472 |
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| author | Marash, Seyed Jalal Eshkoor, Sima Ataollahi Mirinargesi, Mir Saed Sarookhani, Mohammad Reza Rahmat, Asmah Ismail, Patimah |
| author_facet | Marash, Seyed Jalal Eshkoor, Sima Ataollahi Mirinargesi, Mir Saed Sarookhani, Mohammad Reza Rahmat, Asmah Ismail, Patimah |
| author_sort | Marash, Seyed Jalal |
| collection | UPM |
| description | The aim of the present study was to determine the phenotype and genotype frequency of the most common β-globin mutations among the thalassemia major (TM) patients, using high-resolution melting (HRM) curve analysis as a novel, reliable and rapid scanning method. In this descriptive-analytical study, real time polymerase chain reaction (PCR) was applied besides HRM assay in the same reaction tube for mutation detection by melting curve behavior analysis of EvaGreen™ dye. The phenotypic and genotypic frequency of β-globin mutations between 120 patients including IVS-II-1(G-A), IVS-I-110 (G-A), IVS-I-5(G-C), FSC 8/9, FSC 36/37, Codon 30, IVS-I-6 (T-C) and IVS-I-1(G-A) was successfully detected. TM patients showed significant genotype heterogeneity. The clinical outcomes of our TM patients were mostly explained by the genotypes linked to the β0 type of β- tahalssemia. Genotypic analysis showed 70 patients with homozygous mutations TM (40 β0/ β0 and 30 β+/ β+) and 15 with compound heterozygous TM (14 β+/ β0 and 1 β0/Hb Variant). HRM method as a simpler and cost effective way, accurately characterized the molecular basis of the TM patients. |
| first_indexed | 2024-03-06T08:00:39Z |
| format | Article |
| id | upm.eprints-24710 |
| institution | Universiti Putra Malaysia |
| language | English |
| last_indexed | 2024-03-06T08:00:39Z |
| publishDate | 2012 |
| publisher | Academic Journals |
| record_format | dspace |
| spelling | upm.eprints-247102017-11-13T03:01:59Z http://psasir.upm.edu.my/id/eprint/24710/ Detection of eight common β-globin gene mutation in thalassemia major patients using real time polymerase chain reaction (PCR)-high resolution melting and EvaGreen™ dye Marash, Seyed Jalal Eshkoor, Sima Ataollahi Mirinargesi, Mir Saed Sarookhani, Mohammad Reza Rahmat, Asmah Ismail, Patimah The aim of the present study was to determine the phenotype and genotype frequency of the most common β-globin mutations among the thalassemia major (TM) patients, using high-resolution melting (HRM) curve analysis as a novel, reliable and rapid scanning method. In this descriptive-analytical study, real time polymerase chain reaction (PCR) was applied besides HRM assay in the same reaction tube for mutation detection by melting curve behavior analysis of EvaGreen™ dye. The phenotypic and genotypic frequency of β-globin mutations between 120 patients including IVS-II-1(G-A), IVS-I-110 (G-A), IVS-I-5(G-C), FSC 8/9, FSC 36/37, Codon 30, IVS-I-6 (T-C) and IVS-I-1(G-A) was successfully detected. TM patients showed significant genotype heterogeneity. The clinical outcomes of our TM patients were mostly explained by the genotypes linked to the β0 type of β- tahalssemia. Genotypic analysis showed 70 patients with homozygous mutations TM (40 β0/ β0 and 30 β+/ β+) and 15 with compound heterozygous TM (14 β+/ β0 and 1 β0/Hb Variant). HRM method as a simpler and cost effective way, accurately characterized the molecular basis of the TM patients. Academic Journals 2012 Article PeerReviewed application/pdf en http://psasir.upm.edu.my/id/eprint/24710/1/24710.pdf Marash, Seyed Jalal and Eshkoor, Sima Ataollahi and Mirinargesi, Mir Saed and Sarookhani, Mohammad Reza and Rahmat, Asmah and Ismail, Patimah (2012) Detection of eight common β-globin gene mutation in thalassemia major patients using real time polymerase chain reaction (PCR)-high resolution melting and EvaGreen™ dye. African Journal of Biotechnology, 11 (2). art. no. 5D9B3BC30381. pp. 448-459. ISSN 1684–5315 http://www.academicjournals.org/journal/AJB/article-abstract/5D9B3BC30381 |
| spellingShingle | Marash, Seyed Jalal Eshkoor, Sima Ataollahi Mirinargesi, Mir Saed Sarookhani, Mohammad Reza Rahmat, Asmah Ismail, Patimah Detection of eight common β-globin gene mutation in thalassemia major patients using real time polymerase chain reaction (PCR)-high resolution melting and EvaGreen™ dye |
| title | Detection of eight common β-globin gene mutation in thalassemia major patients using real time polymerase chain reaction (PCR)-high resolution melting and EvaGreen™ dye |
| title_full | Detection of eight common β-globin gene mutation in thalassemia major patients using real time polymerase chain reaction (PCR)-high resolution melting and EvaGreen™ dye |
| title_fullStr | Detection of eight common β-globin gene mutation in thalassemia major patients using real time polymerase chain reaction (PCR)-high resolution melting and EvaGreen™ dye |
| title_full_unstemmed | Detection of eight common β-globin gene mutation in thalassemia major patients using real time polymerase chain reaction (PCR)-high resolution melting and EvaGreen™ dye |
| title_short | Detection of eight common β-globin gene mutation in thalassemia major patients using real time polymerase chain reaction (PCR)-high resolution melting and EvaGreen™ dye |
| title_sort | detection of eight common β globin gene mutation in thalassemia major patients using real time polymerase chain reaction pcr high resolution melting and evagreen™ dye |
| url | http://psasir.upm.edu.my/id/eprint/24710/1/24710.pdf |
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