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Specific and straightforward molecular investigation of β-thalassemia mutations in the Malaysian Malays and Chinese using direct TaqMan genotyping assays


Citation

Kho, Siew Leng and Chua, Kek Heng and George, Elizabeth and Tan, Mary Anne Jin Ai (2013) Specific and straightforward molecular investigation of β-thalassemia mutations in the Malaysian Malays and Chinese using direct TaqMan genotyping assays. Genetics and Molecular Research, 12 (3). pp. 2409-2415. ISSN 1676-5680

Abstract

Beta-thalassemia is a life-threatening inherited blood disorder. Rapid characterization of β-globin gene mutations is necessary because of the high frequency of Malaysian β-thalassemia carriers. A combination real-time polymerase chain reaction genotyping assay using TaqMan probes was developed to confirm β-globin gene mutations. In this study, primers and probes were designed to specifically identify 8 common β-thalassemia mutations in the Malaysian Malay and Chinese ethnic groups using the Primer Express software. "Blind tests" using DNA samples from healthy individuals and β-thalassemia patients with different genotypes were performed to determine the specificity and sensitivity of this newly designed assay. Our results showed 100% sensitivity and specificity for this novel assay. In conclusion, the TaqMan genotyping assay is a straightforward assay that allows detection of β-globin gene mutations in less than 40 min. The simplicity and reproducibility of the TaqMan genotyping assay permit its use in laboratories as a rapid and cost-effective diagnostic tool for confirmation of common β-thalassemia mutations in Malaysia.


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Official URL or Download Paper: http://www.geneticsmr.com/articles/2116

Additional Metadata

Item Type: Article
Divisions: Faculty of Medicine and Health Science
DOI Number: https://doi.org/10.4238/2013.February.28.4
Publisher: Fundacao de Pesquisas Cientificas de Ribeirao Preto
Keywords: β-thalassemia mutations; Malaysia; Malay; Chinese; TaqMan genotyping assay
Depositing User: Nurul Ainie Mokhtar
Date Deposited: 22 May 2015 08:43
Last Modified: 30 Nov 2016 02:28
Altmetrics: http://www.altmetric.com/details.php?domain=psasir.upm.edu.my&doi=10.4238/2013.February.28.4
URI: http://psasir.upm.edu.my/id/eprint/29670
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