Quantitative methods for the analysis of CFTR transcripts/splicing variants

J Cyst Fibros. 2004 Aug:3 Suppl 2:17-23. doi: 10.1016/j.jcf.2004.05.047.

Abstract

In cystic fibrosis (CF), transcript analysis and quantification are important for diagnosis, prognosis and also as surrogate markers for some therapies including gene therapy. Classical RNA-based methods require significant expression levels in target samples for appropriate analysis, thus PCR-based methods are evolving towards reliable quantification. Various protocols for the quantitative analysis of CFTR transcripts (including those resulting from splicing variants) are described and discussed here.

Publication types

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

MeSH terms

  • Cystic Fibrosis / diagnosis
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Genetic Techniques*
  • Humans
  • Reverse Transcriptase Polymerase Chain Reaction / methods
  • Transcription, Genetic / genetics

Substances

  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator