Two frameshift mutations in the cystic fibrosis gene.

Academic Article

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.
  • Published In

    Keywords

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

  • 1662845
  • Author List

  • Iannuzzi MC; Stern RC; Collins FS; Hon CT; Hidaka N; Strong T; Becker L; Drumm ML; White MB; Gerrard B
  • Start Page

  • 227
  • End Page

  • 231
  • Volume

  • 48
  • Issue

  • 2