A Larger Spectrum of Intragenic Short Tandem Repeats Improves Linkage Analysis and Localization of Intragenic Recombination Detection in the Dystrophin.

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Presentation transcript:

A Larger Spectrum of Intragenic Short Tandem Repeats Improves Linkage Analysis and Localization of Intragenic Recombination Detection in the Dystrophin Gene Antonella Carsana, Giulia Frisso, Maria Roberta Tremolaterra, Elisabetta Ricci, Domenico De Rasmo, Francesco Salvatore The Journal of Molecular Diagnostics Volume 9, Issue 1, Pages 64-69 (February 2007) DOI: 10.2353/jmoldx.2007.060056 Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 Electropherogram of the 15 intragenic STRs labeled with NED (channel 1), PET (channel 2), VIC (channel 3), or FAM (channel 4) fluorochromes. The Journal of Molecular Diagnostics 2007 9, 64-69DOI: (10.2353/jmoldx.2007.060056) Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 A: Simplified map of the dystrophin gene showing the location of the 15 STRs (below) and of exons (above). B: Intragenic recombination events detected in this study and exon deletions present in some families15; the black bars indicate the intervals where recombination events occurred; the red bars indicate the deletion extent and position. The family identification numbers are indicated. The Journal of Molecular Diagnostics 2007 9, 64-69DOI: (10.2353/jmoldx.2007.060056) Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 3 Pedigree and haplotype analysis of two D/BMD families showing recombination events located at the 5′ (A) or at the 3′ (B) region of the dystrophin gene. The thin black bar in FD# 73 (II:1 subject) indicates the region that cannot unambiguously be attributed to one haplotype. The arrows indicate the proband of each family. The Journal of Molecular Diagnostics 2007 9, 64-69DOI: (10.2353/jmoldx.2007.060056) Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions