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 (83)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Claustres, M.
Right arrow Articles by Demaille, J.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Claustres, M.
Right arrow Articles by Demaille, J.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© 1993 Oxford University Press

RESEARCH-ARTICLE

Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in Southern France

Mireille Claustres*, Maguelone Laussel, Marie Desgeorges, Muriel Giansily, Jean-Françols Culard, Gaby Razakatsara and Jacques Demaille

Laboratoue de Biochimie Génétique, CNRS UPR-9008, CRBM U249 and GREPAM, Instrtut de Biologie, Bd Henn IV Montpellier, France

* To whom correspondence should be addressed

Received March 31, 1993; Revised June 4, 1993; Accepted June 4, 1993

In order to characterize the non-{Delta}F508 mutations that account for 36% of cystic fibrosis (CF) chromosomes In Southern France in a sample of 137 patients, we have systematically screened the entire coding region and adjacent sequences of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by the single strand conformation polymorphism (SSCP) technique followed by direct sequencing of the mutant DNAs. We Identified 13 novel mutations (9 reported in this paper) and 4 novel rare nucleotide sequence variations. Forty different mutations Including {Delta}F508, located in 15 exons, account for only 91.2% of mutants In a population originating from Southern France, In contrast with a recent report on the Celtic population of Brittany demonstrating that 90% of mutations can be detected with only three mutations. We present a very large spectrum of different CF mutations Identified in a small geographical area.


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
 Clin. Chem.Home page
J. Montgomery, C. T. Wittwer, J. O. Kent, and L. Zhou
Scanning the Cystic Fibrosis Transmembrane Conductance Regulator Gene Using High-Resolution DNA Melting Analysis
Clin. Chem., November 1, 2007; 53(11): 1891 - 1898.
[Abstract] [Full Text] [PDF]

Home page
 Hum ReprodHome page
N. Pallares-Ruiz, S. Carles, M. Des Georges, C. Guittard, F. Arnal, C. Humeau, and M. Claustres
Complete mutational screening of the cystic fibrosis transmembrane conductance regulator gene: cystic fibrosis mutations are not involved in healthy men with reduced sperm quality
Hum. Reprod., December 1, 1999; 14(12): 3035 - 3040.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
F. S. Seibert, P. Linsdell, T. W. Loo, J. W. Hanrahan, J. R. Riordan, and D. M. Clarke
Cytoplasmic Loop Three of Cystic Fibrosis Transmembrane Conductance Regulator Contributes to Regulation of Chloride Channel Activity
J. Biol. Chem., November 1, 1996; 271(44): 27493 - 27499.
[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.