One Hundred Twenty-One Dystrophin Point Mutations Detected from Stored DNA Samples by Combinatorial Denaturing High-Performance Liquid Chromatography

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One Hundred Twenty-One Dystrophin Point Mutations Detected from Stored DNA Samples by Combinatorial Denaturing High-Performance Liquid Chromatography Annalaura Torella, Amelia Trimarco, Francesca Del Vecchio Blanco, Anna Cuomo, Stefania Aurino, Giulio Piluso, Carlo Minetti, Luisa Politano, Vincenzo Nigro The Journal of Molecular Diagnostics Volume 12, Issue 1, Pages 65-73 (January 2010) DOI: 10.2353/jmoldx.2010.090074 Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 Extraction dates of DNA samples. The Journal of Molecular Diagnostics 2010 12, 65-73DOI: (10.2353/jmoldx.2010.090074) Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 Quality control of PCR yield. A–C: Analysis of each individual sample using the STR DXS8015. D: Analysis of a pool containing three samples. The Journal of Molecular Diagnostics 2010 12, 65-73DOI: (10.2353/jmoldx.2010.090074) Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 3 Examples of aberrant DHPLC profiles. The figure shows different DHPLC profiles with growing complexity from A to D. A: Exon 6 showed a heteroduplex in both pools 1 and 4 sharing the DNA sample TU19, in which a frameshift mutation (c.401 404 delCCAA) was detected. B: Exon 27 heteroduplexes in both pools 2 and 6 sharing the DNA sample TU124, in which a splicing mutation (c.3433-1 A>G) was detected. C: Exon 29 heteroduplexes in pools 1, 4, and 5. Pools 1 and 4 shared the DNA sample TU181, pools 1 and 5 shared the DNA sample TU188. The same nonsense mutation (c.3940 C>T) was detected in both samples. D: Three different exon 14 heteroduplexes in pools 2 and 6 and 1 and 4, corresponding to combination of a mutation (**) and a known polymorphism (*). Arrow indicates homoduplexes. The Journal of Molecular Diagnostics 2010 12, 65-73DOI: (10.2353/jmoldx.2010.090074) Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 4 Distribution of all causative point mutations along the dystrophin cDNA. Segments corresponding to groups of 10 exons are indicated in dark and light gray. The Journal of Molecular Diagnostics 2010 12, 65-73DOI: (10.2353/jmoldx.2010.090074) Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions