1. High Throughput Molecular Confirmation of β-Thalassemia Mutations Using Novel TaqMan Probes.
- Author
-
Siew Leng Kho, Kek Heng Chua, George, Elizabeth, and Anne Tan, Jin Ai Mary
- Subjects
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
- Full Text
- View/download PDF