Comparison of the mismatch-specific endonuclease method and denaturing high-performance liquid chromatography for the identification of HBB gene mutationsReport as inadecuate




Comparison of the mismatch-specific endonuclease method and denaturing high-performance liquid chromatography for the identification of HBB gene mutations - Download this document for free, or read online. Document in PDF available to download.

BMC Biotechnology

, 8:62

First Online: 12 August 2008Received: 17 December 2007Accepted: 12 August 2008

Abstract

BackgroundBeta-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.

ResultsWe 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.

ConclusionCompared 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.

Electronic supplementary materialThe online version of this article doi:10.1186-1472-6750-8-62 contains supplementary material, which is available to authorized users.

Chia-Cheng Hung, Yi-Ning Su contributed equally to this work.

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Author: Chia-Cheng Hung - Yi-Ning Su - Chia-Yun Lin - Yin-Fei Chang - Chien-Hui Chang - Wen-Fang Cheng - Chi-An Chen - Chien-Nan L

Source: https://link.springer.com/article/10.1186/1472-6750-8-62







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