1. High Throughput Molecular Confirmation of β-Thalassemia Mutations Using Novel TaqMan Probes.
- Author
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Siew Leng Kho, Kek Heng Chua, George, Elizabeth, and Anne Tan, Jin Ai Mary
- Subjects
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THALASSEMIA , *GENETIC mutation , *PUBLIC health , *POLYMERASE chain reaction , *SENSITIVITY & specificity (Statistics) - 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. [ABSTRACT FROM AUTHOR]
- Published
- 2013
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