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Sensors 2013, 13(2), 2506-2514; doi:10.3390/s130202506
Article

High Throughput Molecular Confirmation of β-Thalassemia Mutations Using Novel TaqMan Probes

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Received: 22 November 2012 / Revised: 25 January 2013 / Accepted: 6 February 2013 / Published: 18 February 2013
(This article belongs to the Section Biosensors)
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Abstract

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.
Keywords: β-thalassemia; Malaysia; Malay; quantitative real-time PCR; TaqMan β-thalassemia; Malaysia; Malay; quantitative real-time PCR; TaqMan
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Kho, S.L.; Chua, K.H.; George, E.; Tan, J.A.M.A. High Throughput Molecular Confirmation of β-Thalassemia Mutations Using Novel TaqMan Probes. Sensors 2013, 13, 2506-2514.

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