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

Bibliographical note

Funding Information:
The preparation of this review was supported by the EU-European Thematic Network on Cystic Fibrosis and Related Diseases (EU-QLK3-CT-1999-00241) and grants from the Italian Cystic Fibrosis Research Foundation, the Cystic Fibrosis Trust (UK), Vaincre La Mucoviscidose (France), the Portuguese Foundation for Science and Technology (POCTI/1999/MGI/35737; POCTI/MGI/47382/2002) and the EU (“CF-Chip” EU-QLK3-CT-2001-01982).


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


Dive into the research topics of 'Quantitative methods for the analysis of CFTR transcripts/splicing variants'. Together they form a unique fingerprint.

Cite this