A rapid, efficient, and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations

Hum Mutat. 1993;2(3):185-91. doi: 10.1002/humu.1380020306.


We describe the use of DGGE multiplex systems for rapid analysis of 15 exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, in which about half of the known CF molecular defects are clustered. We have previously determined the spectrum of mutations affecting the CFTR gene in the French population using a strategy based on denaturing gradient gel electrophoresis (DGGE) of amplified gene segments. Analysis of CF patients' DNA with five DGGE multiplex systems permitted us to characterize nearly 35% of non-delta F508 CF alleles and increased the CF allele detection rate to almost 82% in this population. This simple and rapid multiplex analysis strategy, which allows a significant proportion of the most frequent CF mutations in Caucasians to be detected, will be helpful in the implementation of genetic screening programs.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Cystic Fibrosis / diagnosis
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA Mutational Analysis / methods*
  • DNA Mutational Analysis / statistics & numerical data
  • Electrophoresis, Polyacrylamide Gel / methods
  • Evaluation Studies as Topic
  • Exons
  • Gene Amplification
  • Genetic Carrier Screening / methods
  • Humans
  • Membrane Proteins / genetics
  • Nucleic Acid Denaturation
  • Polymerase Chain Reaction
  • Sensitivity and Specificity


  • CFTR protein, human
  • Membrane Proteins
  • Cystic Fibrosis Transmembrane Conductance Regulator