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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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Molecular Diversity Preservation International (MDPI)
2013
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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. |
format | Online Article Text |
id | pubmed-3649372 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Molecular Diversity Preservation International (MDPI) |
record_format | MEDLINE/PubMed |
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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