Document Detail

Consequences of partial duplications of the human CFTR gene on cf diagnosis: mutations or ectopic variations.
MedLine Citation:
PMID:  23261175     Owner:  NLM     Status:  MEDLINE    
CFTR exon 10 and its flanking regions are duplicated in the human genome. These duplications present mutations compared to the normal exon 10 sequence. Due to the polymorphic sequence of the 3' intron 9 sequence, it may appear difficult to sequence exon 10 and some mutations described in this exon could, in fact, be variations observed in an ectopic duplicated sequence. In our previous work we described a methodology to carry out PCR only of exon 10 and not of ectopic regions. In this work, we analyzed mutations described in the CF data base as being CFTR mutations but also found in ectopic regions: c.1392G>T, c.1338_1339delAT, c.1235delC, and c.1247A>G. We have shown that these mutations appear to be authentic mutations in CFTR exon 10 and not ectopic variations in analyzed patients. These mutations validate the usefulness of our new strategy in the mutation analysis of this region of CFTR.
Ayman El-Seedy; Marie-Claude Pasquet; Thiery Bienvenu; Eric Bieth; Marie-Pierre Audrezet; Alain Kitzis; Véronique Ladeveze
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2012-12-21
Journal Detail:
Title:  Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society     Volume:  12     ISSN:  1873-5010     ISO Abbreviation:  J. Cyst. Fibros.     Publication Date:  2013 Jul 
Date Detail:
Created Date:  2013-05-31     Completed Date:  2013-10-28     Revised Date:  2013-12-04    
Medline Journal Info:
Nlm Unique ID:  101128966     Medline TA:  J Cyst Fibros     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  407-10     Citation Subset:  IM    
Copyright Information:
Copyright © 2012 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.
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MeSH Terms
Cystic Fibrosis / diagnosis*,  genetics*
Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
Gene Duplication*
Genetic Variation*
Reg. No./Substance:
126880-72-6/Cystic Fibrosis Transmembrane Conductance Regulator

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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