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Comparison of the mismatch-specific endonuclease method and denaturing high-performance liquid chromatography for the identification of HBB gene mutations
BACKGROUND: Beta-thalassemia is a common autosomal recessive hereditary disease in the Meditertanean, Asia and African areas. Over 600 mutations have been described in the beta-globin (HBB), of which more than 200 are associated with a beta-thalassemia phenotype. RESULTS: We used two highly-specific...
Autores principales: | , , , , , , , , |
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Formato: | Texto |
Lenguaje: | English |
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BioMed Central
2008
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2525636/ https://www.ncbi.nlm.nih.gov/pubmed/18694524 http://dx.doi.org/10.1186/1472-6750-8-62 |
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author | Hung, Chia-Cheng Su, Yi-Ning Lin, Chia-Yun Chang, Yin-Fei Chang, Chien-Hui Cheng, Wen-Fang Chen, Chi-An Lee, Chien-Nan Lin, Win-Li |
author_facet | Hung, Chia-Cheng Su, Yi-Ning Lin, Chia-Yun Chang, Yin-Fei Chang, Chien-Hui Cheng, Wen-Fang Chen, Chi-An Lee, Chien-Nan Lin, Win-Li |
author_sort | Hung, Chia-Cheng |
collection | PubMed |
description | BACKGROUND: Beta-thalassemia is a common autosomal recessive hereditary disease in the Meditertanean, Asia and African areas. Over 600 mutations have been described in the beta-globin (HBB), of which more than 200 are associated with a beta-thalassemia phenotype. RESULTS: We used two highly-specific mutation screening methods, mismatch-specific endonuclease and denaturing high-performance liquid chromatography, to identify mutations in the HBB gene. The sensitivity and specificity of these two methods were compared. We successfully distinguished mutations in the HBB gene by the mismatch-specific endonuclease method without need for further assay. This technique had 100% sensitivity and specificity for the study sample. CONCLUSION: Compared to the DHPLC approach, the mismatch-specific endonuclease method allows mutational screening of a large number of samples because of its speed, sensitivity and adaptability to semi-automated systems. These findings demonstrate the feasibility of using the mismatch-specific endonuclease method as a tool for mutation screening. |
format | Text |
id | pubmed-2525636 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2008 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-25256362008-08-27 Comparison of the mismatch-specific endonuclease method and denaturing high-performance liquid chromatography for the identification of HBB gene mutations Hung, Chia-Cheng Su, Yi-Ning Lin, Chia-Yun Chang, Yin-Fei Chang, Chien-Hui Cheng, Wen-Fang Chen, Chi-An Lee, Chien-Nan Lin, Win-Li BMC Biotechnol Methodology Article BACKGROUND: Beta-thalassemia is a common autosomal recessive hereditary disease in the Meditertanean, Asia and African areas. Over 600 mutations have been described in the beta-globin (HBB), of which more than 200 are associated with a beta-thalassemia phenotype. RESULTS: We used two highly-specific mutation screening methods, mismatch-specific endonuclease and denaturing high-performance liquid chromatography, to identify mutations in the HBB gene. The sensitivity and specificity of these two methods were compared. We successfully distinguished mutations in the HBB gene by the mismatch-specific endonuclease method without need for further assay. This technique had 100% sensitivity and specificity for the study sample. CONCLUSION: Compared to the DHPLC approach, the mismatch-specific endonuclease method allows mutational screening of a large number of samples because of its speed, sensitivity and adaptability to semi-automated systems. These findings demonstrate the feasibility of using the mismatch-specific endonuclease method as a tool for mutation screening. BioMed Central 2008-08-12 /pmc/articles/PMC2525636/ /pubmed/18694524 http://dx.doi.org/10.1186/1472-6750-8-62 Text en Copyright © 2008 Hung et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( (http://creativecommons.org/licenses/by/2.0) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Methodology Article Hung, Chia-Cheng Su, Yi-Ning Lin, Chia-Yun Chang, Yin-Fei Chang, Chien-Hui Cheng, Wen-Fang Chen, Chi-An Lee, Chien-Nan Lin, Win-Li Comparison of the mismatch-specific endonuclease method and denaturing high-performance liquid chromatography for the identification of HBB gene mutations |
title | Comparison of the mismatch-specific endonuclease method and denaturing high-performance liquid chromatography for the identification of HBB gene mutations |
title_full | Comparison of the mismatch-specific endonuclease method and denaturing high-performance liquid chromatography for the identification of HBB gene mutations |
title_fullStr | Comparison of the mismatch-specific endonuclease method and denaturing high-performance liquid chromatography for the identification of HBB gene mutations |
title_full_unstemmed | Comparison of the mismatch-specific endonuclease method and denaturing high-performance liquid chromatography for the identification of HBB gene mutations |
title_short | Comparison of the mismatch-specific endonuclease method and denaturing high-performance liquid chromatography for the identification of HBB gene mutations |
title_sort | comparison of the mismatch-specific endonuclease method and denaturing high-performance liquid chromatography for the identification of hbb gene mutations |
topic | Methodology Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2525636/ https://www.ncbi.nlm.nih.gov/pubmed/18694524 http://dx.doi.org/10.1186/1472-6750-8-62 |
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