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Research Article Free access | 10.1172/JCI114471

Identification of the multiple beta-thalassemia mutations by denaturing gradient gel electrophoresis.

S P Cai and Y W Kan

Department of Laboratory Medicine, University of California, San Francisco 94143-0724.

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Department of Laboratory Medicine, University of California, San Francisco 94143-0724.

Find articles by Kan, Y. in: PubMed | Google Scholar

Published February 1, 1990 - More info

Published in Volume 85, Issue 2 on February 1, 1990
J Clin Invest. 1990;85(2):550–553. https://doi.org/10.1172/JCI114471.
© 1990 The American Society for Clinical Investigation
Published February 1, 1990 - Version history
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Abstract

We used denaturing gradient gel electrophoresis to detect the beta-thalassemia mutations in the Chinese population. By amplifying the beta-globin gene in four separate fragments and electrophoresing the amplified DNA in two gels, we were able to distinguish all the 12 known mutations on the basis of the mobility of the homoduplexes and heteroduplexes. We conclude that denaturing gradient gel electrophoresis offers a nonradioactive means of detecting multiple mutations in genetic disorders.

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