UPM Institutional Repository

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


Citation

Kho, Siew Leng and Chua, Kek Heng and George, Elizabeth and Tan, Mary Anne Jin Ai (2013) High throughput molecular confirmation of β-thalassemia mutations using novel TaqMan probes. Sensors, 13 (2). pp. 2506-2514. ISSN 1424-8220

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.


Download File

[img]
Preview
PDF (Abstract)
High throughput molecular confirmation of β.pdf

Download (265kB) | Preview
Official URL or Download Paper: http://www.mdpi.com/1424-8220/13/2/2506

Additional Metadata

Item Type: Article
Divisions: Faculty of Medicine and Health Science
DOI Number: https://doi.org/10.3390/s130202506
Publisher: MDPI
Keywords: β-thalassemia; Malaysia; Malay; Quantitative real-time PCR; TaqMan
Depositing User: Nurul Ainie Mokhtar
Date Deposited: 24 May 2015 23:50
Last Modified: 30 Nov 2016 02:47
Altmetrics: http://www.altmetric.com/details.php?domain=psasir.upm.edu.my&doi=10.3390/s130202506
URI: http://psasir.upm.edu.my/id/eprint/29672
Statistic Details: View Download Statistic

Actions (login required)

View Item View Item