Rapid Mutation Screening for HRPT2 and MEN1 Mutations Associated with Familial and Sporadic Primary Hyperparathyroidism Viive M. Howell, John W. Cardinal,

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Rapid Mutation Screening for HRPT2 and MEN1 Mutations Associated with Familial and Sporadic Primary Hyperparathyroidism Viive M. Howell, John W. Cardinal, Anne-Louise Richardson, Oliver Gimm, Bruce G. Robinson, Deborah J. Marsh The Journal of Molecular Diagnostics Volume 8, Issue 5, Pages 559-566 (November 2006) DOI: 10.2353/jmoldx.2006.060015 Copyright © 2006 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 DHPLC results for MEN1 exon 9 amplicon at 62°C. A: Discriminant analysis using the scattergraph function of Navigator software of exon 9 wild type, D418D (c.1364C>T) heterozygous, and unknown samples at 62°C. Scattergraph grouped the chromatograms into three different clusters, labeled 1 to 3 (B), and matched the three different genotypes determined by subsequent sequencing. The clusters are shown in three-dimensional space with clear separation between the clusters. C: Chromatograms for the remaining seven MEN1 mutations assessed for exon 9. All were distinguishable from the polymorphism (A), and the mutation c.1458C>T was discernible in the presence of the polymorphism. The Journal of Molecular Diagnostics 2006 8, 559-566DOI: (10.2353/jmoldx.2006.060015) Copyright © 2006 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 MEN1 test set analysis. Six samples known to harbor a MEN1 mutation were analyzed in a blinded manner, along with 19 to 20 control DNA samples from a panel of healthy volunteers. Scattergraph plots identified mutations (circled) in exons 3 (A), 4 (B), 8 (C), and 10 (D). The results for the exon 9 unknown sample are shown in Figure 1. The Journal of Molecular Diagnostics 2006 8, 559-566DOI: (10.2353/jmoldx.2006.060015) Copyright © 2006 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 3 DHPLC results for HRPT2 exon 1 and exon 7 amplicons. A: Chromatograms for the exon 1 wild type, polymorphism c.33C>T, and mutation c.76delA at 62°C. B: Chromatograms for the exon 7 samples at 56°C, and the wild type and mutation c.636delT also at 57°C, at which temperature this mutation was more readily detected. The Journal of Molecular Diagnostics 2006 8, 559-566DOI: (10.2353/jmoldx.2006.060015) Copyright © 2006 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 4 DHPLC results for HRPT2 exon 2. A: Navigator software generated melt curves for the exon 2 amplicon at 53°C and 57°C. The exonic region of the amplicon is shaded, and the numbers above the curves indicate the locations of the mutations as listed in (B). B: Chromatograms for the exon 2 samples run at both 53°C and 57°C. At 53°C, the two IVS2 polymorphisms have markedly aberrant chromatograms, whereas two mutations (c.191T>C and c.165delC) show only subtle changes from the wild-type peak. At 57°C, the chromatograms for the two IVS2 polymorphisms are indistinguishable from the wild-type sample, whereas the two mutations c.191T>C and c.165delC are now easily discernible as having aberrant chromatograms. The remaining two mutations displayed aberrant chromatograms at both temperatures. The Journal of Molecular Diagnostics 2006 8, 559-566DOI: (10.2353/jmoldx.2006.060015) Copyright © 2006 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions