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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...

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Autores principales: 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
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
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.
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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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