Neurogenetics

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.

Includes supplementary material: sn.pub/extras

Part I. Quantitative PCRDetermination of Gene Dosage: Utilization of Endogenous and Exogenous Internal StandardsThomas W. PriorSemiquantitative PCR for the Detection of Exon Rearrangements in the Parkin GeneChristoph B. Lücking and Alexis BricePart II. Trinucleotide Repeat DetectionDetection of FMR1 Trinucleotide Repeat Expansion Mutations Using Southern Blot and PCR MethodologiesJack TarletonExtreme Expansion Detection in Spinocerebellar Ataxia Type 2 and Type 7Karen Snow and Rong MaoRepeat Expansion Detection (RED) and the RED Cloning StrategyQiu-Ping Yuan, Kerstin Lindblad-Toh, and Martin SchallingRepeat Analysis Pooled Isolation and Detection (RAPID) Cloning of Microsatellite ExpansionsLaura P. W. RanumDIRECT Technologies for Molecular Cloning of Genes Containing Expanded CAG RepeatsKazuhiro Sanpei, Takeshi Ikeuchi, and Shoji TsujiAntibody-Based Detection of CAG Repeat Expansion Containing GenesYvon TrottierDetection of Trinucleotide Repeat Containing Genes by Matrix-Assisted Laser Desorption/Ionization (MALDI) Mass SpectrometryChung-Hsuan Chen, Nicholas T. Potter, and Nelly T. TaranenkoFluorescence PCR and GeneScan® Analysis for the Detection of CAG Repeat Expansions Associated with Huntington's DiseaseCindy L. Vnencak-JonesPart III. Sequence-Based Mutation DetectionMolecular Detection of Galactosemia Mutations by PCR-ELISAKasinathan Muralidharan and Wei ZhangDenaturing High-Performance Liquid Chromatography and Sequence Analyses for MECP2 Mutations in Rett SyndromeInge M. Buyse and Benjamin B. RoaMultiplexed Fluorescence Analysis for Mutations Causing Tay-Sachs DiseaseTracy L. Stockley and Peter N. RaySingle-Strand Conformational Polymorphism Analysis (SSCP) and Sequencing for Ion Channel GeneMutationsKylie A. Scoggan and Dennis E. BulmanPulse Field Gel Electrophoresis for the Detection of Facioscapulohumeral Muscular Dystrophy Gene RearrangementsLuciano Felicetti and Giuliana GalluzziDenaturing Gradient Gel Electrophoresis (DGGE) for Mutation Detection in Duchenne Muscular Dystrophy (DMD)Luciana C. B. DolinskyGenetic Diagnosis of Charcot-Marie-Tooth DiseaseFrank BaasAnalysis of Human Mitochondrial DNA MutationsAntonio L. Andreu, Ramon Martí, and Michio HiranoDetection of Mitochondrial DNA Mutations Associated with Leber Hereditary Optic NeuropathyKasinathan MuralidharanPart IV. Molecular Detection of Imprinted GenesPCR-Based Strategies for the Diagnosis of Prader-Willi/Angelman SyndromesMilen Velinov and Edmund C. JenkinsPart 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 DiseaseMansoor S. Mohammed and Lisa G. ShafferPart VI. In Vitro Expression Systems and Studies of Protein Expression and FunctionDrosophila Models of Polyglutamine DiseasesH. Y. Edwin Chan and Nancy M. BoniniA Comparative Gene Expression Analysis of Emery-Dreifuss Muscular Dystrophy Using a cDNA MicroarrayToshifumi Tsukahara and Kiichi ArahataThe COS-7 Cell In Vitro Paradigm to Study Myelin Proteolipid Protein 1 Gene MutationsAlexander GowIn Vitro Expression Systems for the Huntington ProteinShi-Hua Li and Xiao-Jiang LiHeterologous Expression of Ion ChannelsAndrew R. Tapper and Alfred L. George, JrAn Assay for Characterizing In Vitro the Kinetics of Polyglutamine AggregationValerie