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Three different putative splicing mutations in the CFTR gene have been studied by analysing mRNA extracted from nasal epithelial cells harvested from patients with cystic fibrosis. Six patients were analysed, all of whom had classical symptoms of cystic fibrosis (CF). Two patients carried the 621 + 1G-->T mutation, 3 patients carried the 1717 - 1G-->A mutation and 1 patient carried the 1898 + 1G-->A mutation. All patients carried the delta F508 mutation on the other chromosome. Ten non-CF control subjects were also studied. The 621 + 1G-->T mutation resulted in activation of an alternative splice site within exon 4 in one patient and activation of this site or skipping of exon 4 in the other patient. The 1717 - 1G-->A mutation resulted in skipping of exon 11 in all 3 patients studied and the 1898 + 1G-->T mutation resulted in skipping of exon 12. These experiments demonstrate that these mutations do result in aberrant splicing of CFTR mRNA as predicted from the changes in genomic sequence.

Original publication

DOI

10.1093/hmg/2.6.689

Type

Journal article

Journal

Hum Mol Genet

Publication Date

06/1993

Volume

2

Pages

689 - 692

Keywords

Base Sequence, Cystic Fibrosis, Cystic Fibrosis Transmembrane Conductance Regulator, Epithelium, Exons, Frameshift Mutation, Genes, Heterozygote, Humans, Membrane Proteins, Molecular Sequence Data, Nasal Mucosa, RNA Splicing, RNA, Messenger, Sequence Deletion