Description
An international panel of recognized academic physicians, researchers, and clinical laboratory diagnosticians describe their best methods for characterizing neurologically relevant genes, their mutations, and their proteins. Providing detailed step-by-step instructions to assure successful experimental results, these experts cover the key methods for mutation detection and screening, including discussions of quantitative PCR, trinucleotide repeat detection, sequence-based mutation detection, fluorescence in situ hybridization (FISH), in vitro protein expression systems, and studies of protein expression and function. Part I. Quantitative PCR Determination of Gene Dosage: Utilization of Endogenous and Exogenous Internal Standards Thomas W. Prior Semiquantitative PCR for the Detection of Exon Rearrangements in the Parkin Gene Christoph B. Lcking and Alexis Brice Part II. Trinucleotide Repeat Detection Detection of FMR1 Trinucleotide Repeat Expansion Mutations Using Southern Blot and PCR Methodologies Jack Tarleton Extreme Expansion Detection in Spinocerebellar Ataxia Type 2 and Type 7 Karen Snow and Rong Mao Repeat Expansion Detection (RED) and the RED Cloning Strategy Qiu-Ping Yuan, Kerstin Lindblad-Toh, and Martin Schalling Repeat Analysis Pooled Isolation and Detection (RAPID) Cloning of Microsatellite Expansions Laura P. W. Ranum DIRECT Technologies for Molecular Cloning of Genes Containing Expanded CAG Repeats Kazuhiro Sanpei, Takeshi Ikeuchi, and Shoji Tsuji Antibody-Based Detection of CAG Repeat Expansion Containing Genes Yvon Trottier Detection of Trinucleotide Repeat Containing Genes by Matrix-Assisted Laser Desorption/Ionization (MALDI) Mass Spectrometry Chung-Hsuan Chen, Nicholas T. Potter, and Nelly T. Taranenko Fluorescence PCR and GeneScan Analysis for the Detection of CAG Repeat Expansions Associated with Huntington’s Disease Cindy L. Vnencak-Jones Part III. Sequence-Based Mutation Detection Molecular Detection of Galactosemia Mutations by PCR-ELISA Kasinathan Muralidharan and Wei Zhang Denaturing High-Performance Liquid Chromatography and Sequence Analyses for MECP2 Mutations in Rett Syndrome Inge M. Buyse and Benjamin B. Roa Multiplexed Fluorescence Analysis for Mutations Causing Tay-Sachs Disease Tracy L. Stockley and Peter N. Ray Single-Strand Conformational Polymorphism Analysis (SSCP) and Sequencing for Ion Channel Gene Mutations Kylie A. Scoggan and Dennis E. Bulman Pulse Field Gel Electrophoresis for the Detection of Facioscapulohumeral Muscular Dystrophy Gene Rearrangements Luciano Felicetti and Giuliana Galluzzi Denaturing Gradient Gel Electrophoresis (DGGE) for Mutation Detection in Duchenne Muscular Dystrophy (DMD) Luciana C. B. Dolinsky Genetic Diagnosis of Charcot-Marie-Tooth Disease Frank Baas Analysis of Human Mitochondrial DNA Mutations Antonio L. Andreu, Ramon Mart, and Michio Hirano Detection of Mitochondrial DNA Mutations Associated with Leber Hereditary Optic Neuropathy Kasinathan Muralidharan Part IV. Molecular Detection of Imprinted Genes PCR-Based Strategies for the Diagnosis of Prader-Willi/Angelman Syndromes Milen Velinov and Edmund C. Jenkins Part V. Fluorescence In Situ Hybridization (FISH) Fluorescence In Situ Hybridization (FISH) for Identifying the Genomic Rearrangements Associated with Three Myelinopathies: Charcot-Marie-Tooth Disease, Hereditary Neuropathy with Liability to Pressure Palsies, and Pelizaeus-Merzbacher Disease Mansoor S. Mohammed and Lisa G. Shaffer Part VI. In Vitro Expression Systems and Studies of Protein Expression and Function Drosophila Models of Polyglutamine Diseases H. Y. Edwin Chan and Nancy M. Bonini A Comparative Gene Expression Analysis of Emery-Dreifuss Muscular Dystrophy Using a cDNA Microarray Toshifumi Tsukahara and Kiichi Arahata The COS-7 Cell In Vitro Paradigm to Study Myelin Proteolipid Protein 1 Gene Mutations Alexander Gow In Vitro Expression Systems for the Huntington Protein Shi-Hua Li and Xiao-Jiang Li Heterologous Expression of Ion Channels Andrew R. Tapper and Alfred L. George, Jr An Assay for Characterizing In Vitro the Kinetics of Polyglutamine Aggregation Valerie Berthelier and Ronald Wetzel Characterization of Prion Proteins Wenquan Zou, Monica Colucci, Pierluigi Gambetti, and Shu G. Chen Detection of NF1 Mutations Utilizing the Protein Truncation Test (PTT) Meena Upadhyaya, Michael Osborn, and David N. Cooper Application of the Protein Truncation Test (PTT) for the Detection of Tuberosis Sclerosis Complex Type 1 and 2 (TSC1 and TSC2) Mutations Karin Mayer Development and Characterization of Antibodies that Immunoprecipitate the FMR1 Protein Stephanie Ceman, Fuping Zhang, Tamika Johnson, and Stephen T. Warren Immunological Methods for the Analysis of Protein Expression in Neuromuscular Diseases Mariz Vainzof, Maria Rita Passos-Bueno, and Mayana Zatz Index
