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Ten to fifteen percent of CF chromosomes carry mutations which are not detected by routine screening of the CFTR gene for known mutations. Many techniques have been used to screen the CFTR gene for these remaining mutations. Most of the methods use genomic DNA, and since the CFTR gene contains 27 exons, are necessarily labour intensive. We have screened the entire coding region of CFTR, by chemical cleavage of 7 overlapping segments of amplified cDNA. Using this method we have identified 4 sequence changes which had not been detected by screening genomic DNA, and successfully detected 10 out of 13 known mutations. In addition, we have identified 8 alternatively spliced forms of CFTR mRNA, 4 of which have not been described previously. These include transcripts lacking a) exon 3, b) exons 2 + 3, c) exons 9 + 12, and d) the final 357 bp of exon 15 as a result of use of the cryptic splice donor site CA2863/GTTCGT).


Journal article


Hum Mol Genet

Publication Date





1141 - 1146


Base Sequence, Cystic Fibrosis, Cystic Fibrosis Transmembrane Conductance Regulator, DNA Mutational Analysis, DNA, Complementary, Epithelial Cells, Epithelium, Genetic Testing, Humans, Membrane Proteins, Molecular Sequence Data, Mutation, Nasal Mucosa, Polymerase Chain Reaction, RNA Splicing, RNA, Messenger