title: High throughput molecular confirmation of β-thalassemia mutations using novel TaqMan probes.
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.
authors: Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur 50603, Malaysia. khosiewleng@yahoo.com
authors: Siew Leng
authors: SL
authors: Kho
authors: Kek Heng
authors: KH
authors: Chua
authors: Elizabeth
authors: E
authors: George
authors: Jin Ai Mary Anne
authors: JA
authors: Tan
mesh_terms: D000483:Alleles; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D015342:DNA Probes / Q000378:metabolism*; D060005:Genotyping Techniques; D057166:High-Throughput Screening Assays / Q000379:methods*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D015203:Reproducibility of Results; D019914:Taq Polymerase / Q000378:metabolism*; D013698:Templates, Genetic; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D015342:DNA Probes; D004247:DNA; D019914:Taq Polymerase