High throughput molecular confirmation of β-thalassemia mutations using novel TaqMan probes
β-Thalassemia is a public health problem where 4.5% of Malaysians are β-thalassemia carriers. The genetic disorder is caused by defects in the β-globin gene complex which lead to reduced or complete absence of β-globin chain synthesis. Five TaqMan genotyping assays were designed and developed to det...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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MDPI
2013
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| Online Access: | http://psasir.upm.edu.my/id/eprint/29672/1/High%20throughput%20molecular%20confirmation%20of%20%CE%B2.pdf |
| _version_ | 1825947557171298304 |
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| author | Kho, Siew Leng Chua, Kek Heng George, Elizabeth Tan, Mary Anne Jin Ai |
| author_facet | Kho, Siew Leng Chua, Kek Heng George, Elizabeth Tan, Mary Anne Jin Ai |
| author_sort | Kho, Siew Leng |
| collection | UPM |
| description | β-Thalassemia is a public health problem where 4.5% of Malaysians are β-thalassemia carriers. The genetic disorder is caused by defects in the β-globin gene complex which lead to reduced or complete absence of β-globin chain synthesis. Five TaqMan genotyping assays were designed and developed to detect the common β-thalassemia mutations in Malaysian Malays. The assays were evaluated with 219 “blinded” DNA samples and the results showed 100% sensitivity and specificity. The in-house designed TaqMan genotyping assays were found to be cost- and time-effective for characterization of β-thalassemia mutations in the Malaysian population. |
| first_indexed | 2024-03-06T08:15:12Z |
| format | Article |
| id | upm.eprints-29672 |
| institution | Universiti Putra Malaysia |
| language | English |
| last_indexed | 2024-03-06T08:15:12Z |
| publishDate | 2013 |
| publisher | MDPI |
| record_format | dspace |
| spelling | upm.eprints-296722016-11-30T02:47:34Z http://psasir.upm.edu.my/id/eprint/29672/ High throughput molecular confirmation of β-thalassemia mutations using novel TaqMan probes Kho, Siew Leng Chua, Kek Heng George, Elizabeth Tan, Mary Anne Jin Ai β-Thalassemia is a public health problem where 4.5% of Malaysians are β-thalassemia carriers. The genetic disorder is caused by defects in the β-globin gene complex which lead to reduced or complete absence of β-globin chain synthesis. Five TaqMan genotyping assays were designed and developed to detect the common β-thalassemia mutations in Malaysian Malays. The assays were evaluated with 219 “blinded” DNA samples and the results showed 100% sensitivity and specificity. The in-house designed TaqMan genotyping assays were found to be cost- and time-effective for characterization of β-thalassemia mutations in the Malaysian population. MDPI 2013-02-18 Article PeerReviewed application/pdf en http://psasir.upm.edu.my/id/eprint/29672/1/High%20throughput%20molecular%20confirmation%20of%20%CE%B2.pdf Kho, Siew Leng and Chua, Kek Heng and George, Elizabeth and Tan, Mary Anne Jin Ai (2013) High throughput molecular confirmation of β-thalassemia mutations using novel TaqMan probes. Sensors, 13 (2). pp. 2506-2514. ISSN 1424-8220 http://www.mdpi.com/1424-8220/13/2/2506 10.3390/s130202506 |
| spellingShingle | Kho, Siew Leng Chua, Kek Heng George, Elizabeth Tan, Mary Anne Jin Ai High throughput molecular confirmation of β-thalassemia mutations using novel TaqMan probes |
| title | High throughput molecular confirmation of β-thalassemia mutations using novel TaqMan probes |
| title_full | High throughput molecular confirmation of β-thalassemia mutations using novel TaqMan probes |
| title_fullStr | High throughput molecular confirmation of β-thalassemia mutations using novel TaqMan probes |
| title_full_unstemmed | High throughput molecular confirmation of β-thalassemia mutations using novel TaqMan probes |
| title_short | High throughput molecular confirmation of β-thalassemia mutations using novel TaqMan probes |
| title_sort | high throughput molecular confirmation of β thalassemia mutations using novel taqman probes |
| url | http://psasir.upm.edu.my/id/eprint/29672/1/High%20throughput%20molecular%20confirmation%20of%20%CE%B2.pdf |
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