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Open Access Methodology article

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

Chia-Cheng Hung1, Yi-Ning Su23, Chia-Yun Lin1, Yin-Fei Chang3, Chien-Hui Chang4, Wen-Fang Cheng5, Chi-An Chen5, Chien-Nan Lee5* and Win-Li Lin1

Author Affiliations

1 Institute of Biomedical Engineering, College of Medicine and College of Engineering, National Taiwan University, Taipei, Taiwan

2 Graduate Institute of Clinical Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan

3 Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan

4 Institute of Molecular Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan

5 Department of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei, Taiwan

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BMC Biotechnology 2008, 8:62  doi:10.1186/1472-6750-8-62

Published: 12 August 2008

Abstract

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.