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 (22)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Morral, N.
Right arrow Articles by Estivill, X.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Morral, N.
Right arrow Articles by Estivill, X.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© 1993 Oxford University Press

OTHER

Uniparental inheritance of microsatellite alleles of the cystic fibrosis gene (CFTR): identification of a 50 kilobase deletion

Núria Morral, Virginia Nunes, Teresa Casals, Nicolás Cobos1, Oscar Asensio2, Javier Dapena3 and Xavier Estivill*,

Molecular Genetics Department, Cancer Research Institute (IRO), Hospital Duran i Reynals, A.Castelldefels Km 2.7, 08907 L'Hospitalet de Llobregat Barcelona, Catalunya 1Cystic Fibrosis Unit, Hospital de la Vall d'Hebron Barcelona 2Cystic Fibrosis Unit, Hospital Infantil de Sabadell Barcelona 3Pediatric Unit, Hospital Virgen del Rocío Sevilla, Spain

*To whom correspondence should be addressed

Received February 23, 1993; Revised April 7, 1993; Accepted April 7, 1993

More than 250 mutations have been detected in the cystic fibrosis (CF) transmembrane regulator (CFTR) gene, most of which are single point mutations or small deletions or insertions of a few nucleotides. Here we report the first large deletion identified in the CFTR gene, which involves 50 kb in two stretches of DNA: one of 10 kb from exon 4 to exon 7, and another of 40 kb, spanning exons 11 to 18. The deletion has been detected via uniparental inheritance of CFTR microsatellite alleles (IVS17BTA and IVS17BCA) in 3 independent CF families. Clinical status of the 3 CF patients, of which two have the {Delta}F508 mutation as the other CF allele, suggests that this mutation is responsible for a severe clinical phenotype, indistinguishable from homozygous {Delta}F508 patients. The deletion detected here suggests that other large, but less complex molecular defects could also exist in the CFTR gene.


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
 J. Mol. Diagn.Home page
I. Schrijver, K. Rappahahn, L. Pique, M. Kharrazi, and L.-J. Wong
Multiplex Ligation-Dependent Probe Amplification Identification of Whole Exon and Single Nucleotide Deletions in the CFTR Gene of Hispanic Individuals with Cystic Fibrosis
J. Mol. Diagn., July 1, 2008; 10(4): 368 - 375.
[Abstract] [Full Text] [PDF]

Home page
 J. Mol. Diagn.Home page
F. M. Hantash, J. B. Redman, D. Goos, A. Kammesheidt, M. J. McGinniss, W. Sun, and C. M. Strom
Characterization of a Recurrent Novel Large Duplication in the Cystic Fibrosis Transmembrane Conductance Regulator Gene
J. Mol. Diagn., September 1, 2007; 9(4): 556 - 560.
[Abstract] [Full Text] [PDF]

Home page
 Clin. Chem.Home page
M. Schneider, F. Joncourt, J. Sanz, T. von Kanel, and S. Gallati
Detection of Exon Deletions within an Entire Gene (CFTR) by Relative Quantification on the LightCycler
Clin. Chem., November 1, 2006; 52(11): 2005 - 2012.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
F Niel, J Martin, F Dastot-Le Moal, B Costes, B Boissier, V Delattre, M Goossens, and E Girodon
Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis
J. Med. Genet., November 1, 2004; 41(11): e118 - e118.
[Full Text] [PDF]

Home page
 Clin. Chem.Home page
B. Costes, E. Girodon, D. Vidaud, E. Flori, A. Ardalan, P. Conteville, P. Fanen, F. Niel, M. Vidaud, and M. Goossens
Prenatal Detection by Real-Time Quantitative PCR and Characterization of a New CFTR Deletion, 3600+15kbdel5.3kb (or CFTRdele19)
Clin. Chem., September 1, 2000; 46(9): 1417 - 1420.
[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.