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

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

Author information

1
Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur 50603, Malaysia. khosiewleng@yahoo.com

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. 

PMID:
23429513
PMCID:
PMC3649372
DOI:
10.3390/s130202506
[Indexed for MEDLINE]
Free PMC Article
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