A New Insertion/Deletion of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Accounts for 3.4% of Cystic Fibrosis Mutations in Sardinia: Implications.

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A New Insertion/Deletion of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Accounts for 3.4% of Cystic Fibrosis Mutations in Sardinia: Implications for Population Screening Valeria Faà, Pietro Pellegrini Bettoli, Maria Demurtas, Maurizio Zanda, Vincenzina Ferri, Antonio Cao, Maria Cristina Rosatelli The Journal of Molecular Diagnostics Volume 8, Issue 4, Pages 499-503 (September 2006) DOI: 10.2353/jmoldx.2006.050146 Copyright © 2006 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 Electrophoretic pattern of PCR cDNA fragment spanning exons 1–5. 1: cDNA of CF patient. The 359-bp fragment represents the recombinant chromosome. 2: normal control. The Journal of Molecular Diagnostics 2006 8, 499-503DOI: (10.2353/jmoldx.2006.050146) Copyright © 2006 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 The new mutation c.54-5811_164 + 2186del8108ins182. Boxes containing lined bars represent the 182-bp inserted sequences of intron 3. The intronic sequence is represented by 5′-a-b-c-d-3′. After the inversion, the inserted sequence is 5′-d-c-b-a-3′. Boxes containing black bars represent L1 element sequences. The Journal of Molecular Diagnostics 2006 8, 499-503DOI: (10.2353/jmoldx.2006.050146) Copyright © 2006 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions