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

J Clin Invest. 1990 Feb;85(2):550-3. doi: 10.1172/JCI114471.

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Base Sequence
  • DNA / analysis*
  • Electrophoresis
  • Heterozygote
  • Humans
  • Molecular Sequence Data
  • Mutation*
  • Nucleic Acid Denaturation*
  • Polymerase Chain Reaction
  • Thalassemia / genetics*

Substances

  • DNA