Two-dimensional DNA electrophoresis in mutation detection

Jan Vijg, Ying Wu, AndréG G. Uitterlinden, Erik Mullaart

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


Accurate detection of gene mutations is important in may areas of biology and medicine. In fundamental studies of mutagenesis it is often necessary to assess all possible mutations, either spontaneous or induced by genotoxic agents, in a particular gene or gene sequence to explain a given cellular or physiological endpoint. In molecular medicine comprehensive detection of all possible mutations in a disease gene is required before clinical genetic testing becomes feasible. Of the many mutation detection methods currently available none is capable of scanning for all possible mutations in a cost-effective manner. Here we show that by two-dimensional DNA electrophoretiv separation, on the basis of both size and base pair sequence, in principle all mutations in a given gene can be detected. This is illustrated by some data on 2-D electrophoresis of 10 exons of the cystic fibrosis gene.

Original languageEnglish (US)
Pages (from-to)205-214
Number of pages10
JournalMutation Research Regular Papers
Issue number2
StatePublished - Jul 16 1994
Externally publishedYes


  • CFTR gene
  • Denaturing gradient gel electrophoresis
  • Mutation detection
  • Two-dimensional DNA electrophoretic separation

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Health, Toxicology and Mutagenesis


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