High throughput molecular confirmation of β-thalassemia mutations using novel TaqMan probes

Sensors (Basel). 2013 Feb 18;13(2):2506-14. doi: 10.3390/s130202506.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Base Sequence
  • DNA / genetics
  • DNA Mutational Analysis
  • DNA Probes / metabolism*
  • Genotyping Techniques
  • High-Throughput Screening Assays / methods*
  • Humans
  • Mutation / genetics*
  • Reproducibility of Results
  • Taq Polymerase / metabolism*
  • Templates, Genetic
  • beta-Thalassemia / genetics*

Substances

  • DNA Probes
  • DNA
  • Taq Polymerase