Abstract
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 ΔF508 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 language | English (US) |
|---|---|
| Pages (from-to) | 689-692 |
| Number of pages | 4 |
| Journal | Human molecular genetics |
| Volume | 2 |
| Issue number | 6 |
| DOIs | |
| State | Published - Jun 1993 |
Funding
The authors are grateful to die CF patients who provided samples for diis study, to Dr M.Super and Dr A.Thomson for allowing access to their patients, to Dr M.Schwartz at Royal Manchester Children's Hospital and Dr A.Miciak at the Churchill Hospital Oxford for preliminary genotyping and to Dr C.Mathew for the O43E primer. The work was supported by the Cystic Fibrosis Trust. J.H. is also supported by the H.C.Roscoe Fellowship from the BMA.
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
- Molecular Biology