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

Abstract

We used denaturing gradient gel electrophoresis to detect the β-thalassemia mutations in the Chinese population. By amplifying the β-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.