Omission of exon 12 in cystic fibrosis transmembrane conductance regulator (CFTR) gene transcripts

Hum Genet. 1992 Aug;89(6):615-9. doi: 10.1007/BF00221949.

Abstract

Cystic fibrosis transmembrane conductance regulator (CFTR) mRNA transcripts isolated from both expressing and "non-expressing" cell types of normal individuals exhibit differential splicing to a variable extent in a region encoding the putative nucleotide binding fold of the CFTR polypeptide. Sequence analysis of the aberrant fragments obtained after cDNA polymerase chain reaction amplification confirmed the in-frame joining of exons 11 and 13. The proportion of alternative splicing is reproducible and constant in a given individual. The omission of exon 12 in a significant proportion of transcripts supports the hypothesis that a minimal amount of correctly expressed CFTR is sufficient for the maintenance of a clinically normal phenotype.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Epithelium / physiology
  • Exons / genetics*
  • Female
  • Gene Expression / genetics
  • Humans
  • Lymphocytes / physiology
  • Male
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • RNA, Messenger / genetics

Substances

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