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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 publication




Journal article


J Cyst Fibros

Publication Date



3 Suppl 2


7 - 10


Cystic Fibrosis Transmembrane Conductance Regulator, DNA, DNA Mutational Analysis, Genetic Techniques, Genome, Humans, Mutation