French CF family genotype analysis shows that the R297Q mutation is a rare polymorphism

Hum Mutat. 1995;6(4):334-5. doi: 10.1002/humu.1380060407.

Abstract

The authors describe a cystic fibrosis family genotype analysis showing that the R297Q amino acid change is a rare polymorphism rather than a deleterious mutation as previously reported. Indeed in this family two healthy subjects have the following genotypes: delta F508/R297Q and N1303K/R297Q.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Female
  • Genotype
  • Humans
  • Male
  • Mutation
  • Pedigree
  • Polymorphism, Genetic*

Substances

  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator