Two frameshift mutations in the cystic fibrosis gene

Am J Hum Genet. 1991 Feb;48(2):227-31.

Abstract

Cystic fibrosis (CF) is a recessive disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. We have identified in exon 7 two frameshift mutations, one caused by a two-nucleotide insertion and the other caused by a one-nucleotide deletion; these mutations--CF1154insTC and CF1213delT, respectively, are predicted to shift the reading frame of the protein and to introduce UAA(ochre) termination codons at residues 369 and 368.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Amino Acid Sequence
  • Base Sequence
  • Cystic Fibrosis / genetics*
  • DNA / genetics
  • Electrophoresis, Polyacrylamide Gel
  • Exons
  • Frameshift Mutation*
  • Humans
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Polymorphism, Genetic

Substances

  • DNA