Cecily P. Vaughn, Elaine Lyon, Wade S. Samowitz

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Confirmation of Single Exon Deletions in MLH1 and MSH2 Using Quantitative Polymerase Chain Reaction Cecily P. Vaughn, Elaine Lyon, Wade S. Samowitz The Journal of Molecular Diagnostics Volume 10, Issue 4, Pages 355-360 (July 2008) DOI: 10.2353/jmoldx.2008.080021 Copyright © 2008 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 MLPA results showing a multiexon deletion of MSH2 exons 8–15 (sample 10) (A) and a single exon deletion of MSH2 exon 8 (sample 9) (B). Nondeleted exons have ratios of ∼1 (green squares), whereas deleted exons have ratios of ∼0.5 (red squares). The Journal of Molecular Diagnostics 2008 10, 355-360DOI: (10.2353/jmoldx.2008.080021) Copyright © 2008 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 Real-time amplification curves for samples 1 to 5 for β2-microglobulin (A) and MLH1 exon 13 (B). Each sample was run in duplicate. The starting concentration of all samples was 50 ng per reaction; thus, similar CT values for the reference gene, β2-microglobulin, are observed. In the MLH1 exon 13 amplification, samples without a deletion in this exon (samples 3 to 5) have CT values of ∼22.5. Samples with a deletion in this exon (samples 1 and 2) have CT values that are approximately one cycle later at ∼23.5. The Journal of Molecular Diagnostics 2008 10, 355-360DOI: (10.2353/jmoldx.2008.080021) Copyright © 2008 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions