A novel mutation in exon 3 of the CFTR gene

Hum Genet. 1993 Apr;91(3):233-5. doi: 10.1007/BF00218262.

Abstract

We have screened the 27 exons of the cystic fibrosis transmembrane conductance regulator gene in 87 non-delta F508 chromosomes of Breton origin using the combined techniques of denaturing gradient gel electrophoresis and direct sequencing. By this process, we have detected a new missense mutation, G91R, which results in an arginine for glycine at codon 91. Three affected patients with a delta F508/G91R genotype are pancreatic sufficient. Such observations could facilitate a better understanding of the functional importance of different regions of the encoded product and of the pathogenesis of the disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA
  • DNA Mutational Analysis
  • Electrophoresis, Polyacrylamide Gel
  • Exons*
  • Humans
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Mutation*

Substances

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