Comprehensive and accurate mutation scanning of the CFTR gene by two- dimensional DNA electrophoresis

Ying Wu, Robert M.W. Hofstra, Hans Scheffer, André G. Uitterlinden, Erik Mullaart, Charles H.C.M. Buys, Jan Vijg

Research output: Contribution to journalArticlepeer-review

24 Scopus citations


The large number of possible disease-causing mutations in the 27 exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene has severely limited direct diagnosis of cystic fibrosis (CF) patients and carriers by mutation detection. Here we show that in principle testing for mutations in the CFTR gene can be both substantially facilitated and made virtually complete, by two-dimensional DNA electrophoretic separation of polymerase chain reaction (PCR) amplified exons on the basis of size and basepair sequence in denaturing gradient gels. Under a single optimized set of conditions we were able to obtain a pattern of spots representing all 27 exons of the CFTR gene and to readily detect 17 out of 17 identified sequence variations in 9 different exons in DNA from 11 CF patients and carriers. Our results demonstrate the potential of 2-dimensional DNA electrophoresis for comprehensive mutation analysis of the CFTR gene. The approach serves as a model for comprehensive diagnosis of the many other large disease genes for which a variety of mutations have also been reported.

Original languageEnglish (US)
Pages (from-to)160-167
Number of pages8
JournalHuman Mutation
Issue number2
StatePublished - Aug 22 1996
Externally publishedYes


  • Cystic fibrosis transmembrane conductance regulator (CFTR) gene
  • Denaturing gradient gel electrophoresis (DGGE)
  • Gene mutation
  • Heteroduplex
  • Two- dimensional DNA electrophoresis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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