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High Throughput Molecular Confirmation of β-Thalassemia Mutations Using Novel TaqMan Probes

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 det...

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Detalles Bibliográficos
Autores principales: Kho, Siew Leng, Chua, Kek Heng, George, Elizabeth, Tan, Jin Ai Mary Anne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Diversity Preservation International (MDPI) 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3649372/
https://www.ncbi.nlm.nih.gov/pubmed/23429513
http://dx.doi.org/10.3390/s130202506
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author Kho, Siew Leng
Chua, Kek Heng
George, Elizabeth
Tan, Jin Ai Mary Anne
author_facet Kho, Siew Leng
Chua, Kek Heng
George, Elizabeth
Tan, Jin Ai Mary Anne
author_sort Kho, Siew Leng
collection PubMed
description 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.
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spelling pubmed-36493722013-06-04 High Throughput Molecular Confirmation of β-Thalassemia Mutations Using Novel TaqMan Probes Kho, Siew Leng Chua, Kek Heng George, Elizabeth Tan, Jin Ai Mary Anne Sensors (Basel) Article 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. Molecular Diversity Preservation International (MDPI) 2013-02-18 /pmc/articles/PMC3649372/ /pubmed/23429513 http://dx.doi.org/10.3390/s130202506 Text en © 2013 by the authors; licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (http://creativecommons.org/licenses/by/3.0/).
spellingShingle Article
Kho, Siew Leng
Chua, Kek Heng
George, Elizabeth
Tan, Jin Ai Mary Anne
High Throughput Molecular Confirmation of β-Thalassemia Mutations Using Novel TaqMan Probes
title High Throughput Molecular Confirmation of β-Thalassemia Mutations Using Novel TaqMan Probes
title_full High Throughput Molecular Confirmation of β-Thalassemia Mutations Using Novel TaqMan Probes
title_fullStr High Throughput Molecular Confirmation of β-Thalassemia Mutations Using Novel TaqMan Probes
title_full_unstemmed High Throughput Molecular Confirmation of β-Thalassemia Mutations Using Novel TaqMan Probes
title_short High Throughput Molecular Confirmation of β-Thalassemia Mutations Using Novel TaqMan Probes
title_sort high throughput molecular confirmation of β-thalassemia mutations using novel taqman probes
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3649372/
https://www.ncbi.nlm.nih.gov/pubmed/23429513
http://dx.doi.org/10.3390/s130202506
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