CFTR protein analysis of splice site mutation 2789+5 G-A

J Cyst Fibros. 2008 Mar;7(2):165-7. doi: 10.1016/j.jcf.2007.07.007. Epub 2007 Aug 16.


Ex vivo biochemical analysis of rectal biopsies of a carrier of the mild 2789+5 G-A CFTR frameshift splice site mutation revealed mutant truncated CFTR of expected size and an imbalance of more core-glycosylated and less mature full-length CFTR. This first immunoblot analysis of a non-F508del CFTR mutant protein derived from human tissue demonstrates that splice site mutations should not only be investigated at the mRNA, but also at the protein level to properly interpret the associations between genotype, molecular pathology and disease.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biopsy
  • Child
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis / metabolism
  • Cystic Fibrosis / pathology
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / metabolism
  • DNA Mutational Analysis / methods
  • Genotype
  • Humans
  • Immunoblotting
  • Male
  • Mutation*
  • RNA, Messenger / analysis
  • RNA, Messenger / genetics*
  • Rectum / metabolism
  • Rectum / pathology


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