Mutation Screening of EXT1 and EXT2 by Denaturing High-Performance Liquid Chromatography, Direct Sequencing Analysis, Fluorescence in Situ Hybridization,

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Mutation Screening of EXT1 and EXT2 by Denaturing High-Performance Liquid Chromatography, Direct Sequencing Analysis, Fluorescence in Situ Hybridization, and a New Multiplex Ligation-Dependent Probe Amplification Probe Set in Patients with Multiple Osteochondromas Ivy Jennes, Mark M. Entius, Els Van Hul, Alessandro Parra, Luca Sangiorgi, Wim Wuyts The Journal of Molecular Diagnostics Volume 10, Issue 1, Pages 85-92 (January 2008) DOI: 10.2353/jmoldx.2008.070086 Copyright © 2008 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 Example of the MLPA curve of EXT deletion-negative sample (A), EXT1 exon 8 deletion (family number 200) (B), EXT2 exon 2 deletion (family number 150) (C), and EXT1 exon 2-11 deletion (family number 147) (D). Lines represent the series of dosage coefficients (DQ) for each probe (DQamp n/amp n + 1 = [sample (peak area amplicon n/peak area amplicon n + 1)]/[control (peak area amplicon n/peak area amplicon n + 1)]. The Journal of Molecular Diagnostics 2008 10, 85-92DOI: (10.2353/jmoldx.2008.070086) Copyright © 2008 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 Distribution of mutations detected in the EXT1 gene (top) and EXT2 gene (bottom) in this study. The Journal of Molecular Diagnostics 2008 10, 85-92DOI: (10.2353/jmoldx.2008.070086) Copyright © 2008 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions