High-Throughput Homogeneous Mass Cleave Assay Technology for the Diagnosis of Autosomal Recessive Parkinson's Disease Christopher Schroeder, Michael.

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High-Throughput Homogeneous Mass Cleave Assay Technology for the Diagnosis of Autosomal Recessive Parkinson's Disease Christopher Schroeder, Michael Walter, Daniela Berg, Petra Leitner, Peter Bauer, Zacharias Kohl, Jürgen Winkler, Olaf Riess, Michael Bonin The Journal of Molecular Diagnostics Volume 10, Issue 3, Pages 217-224 (May 2008) DOI: 10.2353/jmoldx.2008.070100 Copyright © 2008 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 Schematic overview of the workflow. A schematic summary of hMC assay and MALDI-TOF MS measurement is shown on the left. See Materials and Methods section for details. After identification of a sequence alteration, validation was performed using standard (Sanger) sequencing (right). The Journal of Molecular Diagnostics 2008 10, 217-224DOI: (10.2353/jmoldx.2008.070100) Copyright © 2008 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 Detection of substitutions with hMC-derived mass spectra in the heterozygous and homozygous state. Mass spectra of the T reverse reaction of a wild type (top), heterozygous (middle), and homozygous (bottom) C253T mutation in exon 7 of Parkin. The sequence in the left part of the figure indicates the variation and the masses of the indicative fragments (underlined). The substitution from G to A in the reverse reaction results in a mass shift of −16 da. The peaks correspond to the mutant (mut) and wild-type (wt) fragment, respectively. The Journal of Molecular Diagnostics 2008 10, 217-224DOI: (10.2353/jmoldx.2008.070100) Copyright © 2008 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 3 Detection of complex sequence changes with hMC-derived mass spectra. A: Sequence variations (left) and corresponding mass spectra (right) for a heterozygous three-nucleotide insertion (1215InsCTT, upper panel) and an adjacent heterozygous SNP (T2512C, lower panel) in exon 8 of the PINK1 gene. Fragments indicative of the respective sequence variation are underlined. The peaks correspond to the mutant (mut) and wild-type (wt) fragments, respectively. B: Dideoxy sequencing reaction of the same DNA. Forward (upper) and reverse (lower) reactions are shown. The positions of both sequence variations are indicated. Interpretation of the sequencing reaction is hardly possible due to the shift of the trace data after the insertion. The Journal of Molecular Diagnostics 2008 10, 217-224DOI: (10.2353/jmoldx.2008.070100) Copyright © 2008 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions