Neurogenetics : methods and protocols

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. Lucking 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/lonization (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 Marti, 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 ... [et al.] -- 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 ... [et al.] -- Immunological Methods for the Analysis of Protein Expression in Neuromuscular Diseases / Mariz Vainzof, Maria Rita Passos-Bueno, and Mayana Zatz