Skip Navigation

This Article
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (17)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Hull, J.
Right arrow Articles by Harris, A.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Hull, J.
Right arrow Articles by Harris, A.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© 1994 Oxford University Press

OTHER

Analysis of mutations and alternative splicing patterns in the CFTR gene using mRNA derived from nasal epithelial cells

Jeremy Hull, Sue Shackleton and Ann Harris*

Paediatric Molecular Genetics, Institute of Molecular Medicine, Oxford University, John Radcliffe Hospital Oxford OX3 9DU, UK

*To whom correspondence should be addressed

Received March 22, 1994; Revised April 22, 1994; Accepted April 22, 1994

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 genomlc 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 genomlc 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).


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Nucleic Acids ResHome page
M. Raponi, F. E. Baralle, and F. Pagani
Reduced splicing efficiency induced by synonymous substitutions may generate a substrate for natural selection of new splicing isoforms: the case of CFTR exon 12
Nucleic Acids Res., January 28, 2007; 35(2): 606 - 613.
[Abstract] [Full Text] [PDF]

Home page
 Hum ReprodHome page
D. Dayangac, H. Erdem, E. Yilmaz, A. Sahin, C. Sohn, M. Ozguc, and T. Dork
Mutations of the CFTR gene in Turkish patients with congenital bilateral absence of the vas deferens
Hum. Reprod., May 1, 2004; 19(5): 1094 - 1100.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
I. Aznarez, E. M. Chan, J. Zielenski, B. J. Blencowe, and L.-C. Tsui
Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene
Hum. Mol. Genet., August 15, 2003; 12(16): 2031 - 2040.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
F. Pagani, C. Stuani, M. Tzetis, E. Kanavakis, A. Efthymiadou, S. Doudounakis, T. Casals, and F. E. Baralle
New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12
Hum. Mol. Genet., May 15, 2003; 12(10): 1111 - 1120.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
F. C. Broackes-Carter, N. Mouchel, D. Gill, S. Hyde, J. Bassett, and A. Harris
Temporal regulation of CFTR expression during ovine lung development: implications for CF gene therapy
Hum. Mol. Genet., January 1, 2002; 11(2): 125 - 131.
[Abstract] [Full Text] [PDF]

Home page
 Am. J. Physiol. Cell Physiol.Home page
R. Tarran, M. A. Gray, M. J. Evans, W. H. Colledge, R. Ratcliff, and B. E. Argent
Basal chloride currents in murine airway epithelial cells: modulation by CFTR
Am J Physiol Cell Physiol, April 1, 1998; 274(4): C904 - C913.
[Abstract] [Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.