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

Authors
Journal
Sensors
1424-8220
Publisher
MDPI AG
Publication Date
Volume
13
Issue
2
Identifiers
DOI: 10.3390/s130202506
Keywords
  • Article
Disciplines
  • Biology
  • Design
  • Medicine

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.

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