Analysis of genomic CFTR DNA

Claude Férec, Cédric Le Maréchal, Marie Pierre Audrézet, Carlos M. Farinha, Margarida D. Amaral, Sabina Gallati, Javier Sanz, Bernhard Steiner, Nathalie Mouchel, Ann Harris, Martin J. Schwarz

Research output: Contribution to journalArticlepeer-review

9 Scopus citations


There are numerous methodologies available for the analysis of genomic CFTR DNA. We present here the basic tools to allow a thorough investigation of the CFTR gene, beginning with the identification of potential regulatory regions using DNase I hypersensitive sites, and continuing with methods for the detection of mutations: denaturing High Performance Liquid Chromatography (dHPLC), Single Strand Conformation Polymorphism (SSCP), and allele-specific oligonucleotide (ASO) hybridisation. Also provided is a comprehensive set of PCR primers for the amplification of most regions of the CFTR gene. Full details of the methodologies given are to be found at the European Working Group on CFTR Expression website

Original languageEnglish
Pages (from-to)7-10
Number of pages4
JournalJournal of Cystic Fibrosis
Issue numberSUPPL. 2
StatePublished - Aug 2004
Externally publishedYes


  • ASO
  • CFTR
  • DNase I
  • Mutation detection
  • SSCP


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