Quantitative methods for the analysis of CFTR transcripts/splicing variants

Margarida D. Amaral*, Luka A. Clarke, Anabela S. Ramalho, Sebastian Beck, Fiona Broackes-Carter, Rebecca Rowntree, Nathalie Mouchel, Sarah H. Williams, Ann Harris, Maria Tzetis, Bernhard Steiner, Javier Sanz, Sabina Gallati, Malka Nissim-Rafinifa, Batsheva Kerem, Timothy Hefferon, Garry R. Cutting, Elisa Goina, Franco Pagani

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

12 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)17-23
Number of pages7
JournalJournal of Cystic Fibrosis
Issue numberSUPPL. 2
StatePublished - Aug 2004


  • Alternative splicing
  • Quantitative PCR
  • RT-PCR
  • Real-time PCR
  • Splicing
  • Transcripts

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine
  • Pediatrics, Perinatology, and Child Health


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