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Genotyping of Frequent BRCA1/2 SNPs with Unlabeled Probes

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1 Genotyping of Frequent BRCA1/2 SNPs with Unlabeled Probes
Kim De Leeneer, Ilse Coene, Bruce Poppe, Anne De Paepe, Kathleen Claes  The Journal of Molecular Diagnostics  Volume 11, Issue 5, Pages (September 2009) DOI: /jmoldx Copyright © 2009 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

2 Figure 1 Melting profiles of an unlabeled probe assay allowing the simultaneous identification of five distinct alleles from two BRCA1 SNPs, separated by a few bp (BRCA1 c.3113 A>G and c.3119G>A). Samples were analyzed with amplicon scanning and unlabeled probe genotyping. With the expert scanning module (left panel) only three distinct clusters can be detected. Samples with alleles heterozygous for only one of both SNPs generate similar melting curves. Furthermore, samples with alleles homozygous for rs16941 (BRCA1 c.3113 A>G) cannot be distinguished from wild-type samples. Genotyping of these samples with our unlabeled probe assay allowed simultaneous identification of all five distinct alleles by melting analysis (right panel). The Journal of Molecular Diagnostics  , DOI: ( /jmoldx ) Copyright © 2009 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions


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