Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients

Hum Genet. 1994 Nov;94(5):533-42. doi: 10.1007/BF00211022.


We have conducted a comprehensive study of the molecular basis of cystic fibrosis (CF) in 350 German CF patients. A screening approach based on single-strand conformation analysis and direct sequencing of genomic polymerase chain reaction products has allowed us to detect the molecular defects on 95.4% of the CF chromosomes within the coding region and splice sites of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The spectrum of sequence changes comprises 54 different mutations, including 17 missense mutations, 14 nonsense mutations, 11 frameshift mutations, 10 splice site variants and two amino acid deletions. Eleven of these mutations have not previously been described. Our results reflect the marked mutational heterogeneity of CF in a large sample of patients from a non-isolated population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Base Sequence
  • Child
  • Child, Preschool
  • Cystic Fibrosis / ethnology
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA Mutational Analysis
  • Female
  • Genetic Heterogeneity*
  • Genetic Testing
  • Germany
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Mutation / genetics*
  • Polymorphism, Single-Stranded Conformational*


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