Influence of the Duplication of CFTR Exon 9 and Its Flanking Sequences on Diagnosis of Cystic Fibrosis Mutations Ayman El-Seedy, Tony Dudognon, Frédéric.

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Influence of the Duplication of CFTR Exon 9 and Its Flanking Sequences on Diagnosis of Cystic Fibrosis Mutations Ayman El-Seedy, Tony Dudognon, Frédéric Bilan, Marie-Claude Pasquet, Marie-Pierre Reboul, Albert Iron, Alain Kitzis, Véronique Ladeveze The Journal of Molecular Diagnostics Volume 11, Issue 5, Pages 488-493 (September 2009) DOI: 10.2353/jmoldx.2009.090005 Copyright © 2009 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 Schematic illustration of primers spanning exon 9 of the human CFTR gene and its intronic boundaries. Black bars, CFTR exon 9 coding region; dotted bars, intronic boundary region; solid arrowheads, beginning and end of similarity with other sequences in the human genome. DNA fragments were obtained using primers from the laboratories of Poitiers Hospital (A) and Bordeaux Hospital (B). Open arrowheads indicate positions of primers developed in this study for specific PCR amplification of the desired region: (C and D) mono specific primers and (E) double specific primers. The Journal of Molecular Diagnostics 2009 11, 488-493DOI: (10.2353/jmoldx.2009.090005) Copyright © 2009 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 Mutations in human CFTR exon 9, its intronic boundaries, and homologous sequences in the human genome. A: Name and localization of potentially incorrect mutations (pseudomutations). These variants could be a consequence of local sequence identity with similar regions in the human genome that result in a severely increased frequency of priming artifacts. B: Horizontal lines show human chromosomal regions with homology to CFTR exon 9 and its intronic boundaries, and arrowheads show positions of mutations found within these homologous sequences (based on CLUSTALW multiple alignment analysis). The Journal of Molecular Diagnostics 2009 11, 488-493DOI: (10.2353/jmoldx.2009.090005) Copyright © 2009 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions