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 |
| Published: |
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 |
| Summary: | 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. |
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