Rebecca L. Margraf, Rong Mao, Carl T. Wittwer

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Presentation transcript:

Rapid Diagnosis of MEN2B Using Unlabeled Probe Melting Analysis and the LightCycler 480 Instrument Rebecca L. Margraf, Rong Mao, Carl T. Wittwer The Journal of Molecular Diagnostics Volume 10, Issue 2, Pages 123-128 (March 2008) DOI: 10.2353/jmoldx.2008.070111 Copyright © 2008 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 MEN2B RET genotyping assay, exon 15 data. A: A typical result for the detection of the targeted codon 883(GCT>TTT) heterozygous mutation (solid gray trace) using the exon 15 unlabeled probe of wild-type sequence. The normal control sample is the solid black trace and the no template control is the gray dotted trace. Wild type and RET mutant allele positions are marked on the graph as well as the ΔTm value. B: Detection of other reported, non-MEN2B RET sequence variations. A normal sample and the 883(GCT>TTT) heterozygous mutation sample are shown with the addition of two other known heterozygous, non-targeted RET sequence variation samples. The black dashed trace is the HSCR mutation at codon 884(GAG>GAC), and the gray dashed trace is the FMTC mutation at codon 883(GCT>ACT). The Tm positions for the mutant alleles are marked with a line of the same color and style as the sample trace. All of the exon 15 heterozygous samples were artificial templates. The Journal of Molecular Diagnostics 2008 10, 123-128DOI: (10.2353/jmoldx.2008.070111) Copyright © 2008 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 MEN2B RET genotyping assay, exon 16 data. A: A typical result for the detection of the targeted codon 918(ATG>ACG) heterozygous mutation (solid gray trace) using the exon 16 unlabeled probe of 918(ATG>ACG) mutation-specific sequence. The normal sample is the solid black trace and the no template control is the gray dotted trace. Wild type and RET mutant allele positions are marked on the graph as well as the ΔTm value. B: Detection of other reported, non-MEN2B RET sequence variations. A normal sample and the 918(ATG>ACG) heterozygous mutation sample are shown with the addition of two other known heterozygous, non-targeted RET sequence variation samples. The black dashed trace is the HSCR mutation at codon 912(CGG>CAG), and the gray dashed trace is the FMTC mutation at codon 912(CGG>CCG). The Tm positions for the mutant alleles are marked with a line of the same color and style as the sample trace. The two heterozygous codon 912 sequence variation samples were artificial templates. The Journal of Molecular Diagnostics 2008 10, 123-128DOI: (10.2353/jmoldx.2008.070111) Copyright © 2008 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions