1990Journal of Clinical InvestigationOpen access

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

Shi‐Ping Cai, Y Kan

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Abstract

We used denaturing gradient gel electrophoresis to detect the fl-thalassemia mutations in the Chinese population.By ampli- fying the 0Bglobin gene in four separate fragments and electro- phoresing 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 con- clude that denaturing gradient gel electrophoresis offers a nonradioactive means of detecting multiple mutations in ge- netic disorders.(J.Clin.Invest.1990.85:550-553.)Chinese ,8-thalassemia -denaturing gradient gel electrophoresis * GC clamp * polymerase chain reaction

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We used denaturing gradient gel electrophoresis to detect the fl-thalassemia mutations in the Chinese population.By ampli- fying the 0Bglobin gene in four separate fragments and electro- phoresing 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 con- clude that denaturing gradient gel electrophoresis offers a nonradioactive means of detecting multiple mutations in ge- netic disorders.(J.Clin.Invest.1990.85:550-553.)Chinese ,8-thalassemia -denaturing gradient gel electrophoresis * GC clamp * polymerase chain reaction

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Available abstract

We used denaturing gradient gel electrophoresis to detect the fl-thalassemia mutations in the Chinese population.By ampli- fying the 0Bglobin gene in four separate fragments and electro- phoresing 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 con- clude that denaturing gradient gel electrophoresis offers a nonradioactive means of detecting multiple mutations in ge- netic disorders.(J.Clin.Invest.1990.85:550-553.)Chinese ,8-thalassemia -denaturing gradient gel electrophoresis * GC clamp * polymerase chain reaction

Key concepts: Temperature gradient gel electrophoresis, Beta thalassemia, Molecular biology, Biology, Thalassemia, Genetics, Gel electrophoresis, Mutation

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