Mutation detection by denaturing gradient gel electrophoresis (DGGE)

Hum Mutat. 1994;3(2):83-94. doi: 10.1002/humu.1380030202.


The molecular analysis of genetic diseases relies on several technical approaches which allow genetic and physical mapping, characterization of the gene structure, expression studies, and identification of disease-causing mutations. Denaturing gradient gel electrophoresis (DGGE) allows the rapid screening for single base changes in enzymatically amplified DNA. The technique is based on the migration of double-stranded DNA molecules through polyacrylamide gels containing linearly increasing concentrations of a denaturing agent. In this review DGGE and the several modifications of the original protocol are presented. Moreover, its applications in human molecular genetics are summarized together with a preliminary comparison with other mutation detection technologies such as chemical cleavage, RNase protection, and single-strand conformation polymorphism.

Publication types

  • Comparative Study
  • Review

MeSH terms

  • Base Sequence
  • DNA / analysis
  • DNA Mutational Analysis / methods*
  • Electrophoresis, Polyacrylamide Gel / methods*
  • Genes, APC
  • Genetic Diseases, Inborn / genetics
  • Globins / genetics
  • Humans
  • Molecular Sequence Data
  • Nucleic Acid Denaturation
  • Polymerase Chain Reaction
  • beta-Glucosidase / genetics


  • Globins
  • DNA
  • beta-Glucosidase