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

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

1 Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur 50603, Malaysia 2 Department of Pathology-Hematology, Faculty of Medicine and Health Sciences, University Putra Malaysia, Serdang, Selangor 43400, Malaysia
* Author to whom correspondence should be addressed.
Received: 22 November 2012; in revised form: 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

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MDPI and ACS Style

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.

AMA Style

Kho SL, Chua KH, George E, Tan JAMA. High Throughput Molecular Confirmation of β-Thalassemia Mutations Using Novel TaqMan Probes. Sensors. 2013; 13(2):2506-2514.

Chicago/Turabian Style

Kho, Siew L.; Chua, Kek H.; George, Elizabeth; Tan, Jin A.M.A. 2013. "High Throughput Molecular Confirmation of β-Thalassemia Mutations Using Novel TaqMan Probes." Sensors 13, no. 2: 2506-2514.

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