Includes bibliographical references and index.

Machine generated contents note: Preface -- Color Plates -- Contributors -- PART I. QUANTITATIVE PCR -- 1 Determination of Gene Dosage: -- Utilization of Endogenous and Exogenous Internal Standards -- Thomas W. Prior -- 2 Semiquantitative PCR for the Detection of Exon Rearrangements in the Parkin Gene -- Christoph B. Lucking and Alexis Brice -- PART II. TRINUCLEOTIDE REPEAT DETECTION -- 3 Detection of FMR1 Trinucleotide Repeat Expansion Mutations Using Southern Blot and PCR Methodologies -- Jack Tarleton -- 4 Extreme Expansion Detection in Spinocerebellar Ataxia Type 2 and Type 7 -- Karen Snow and Rong Mao -- 5 Repeat Expansion Detection (RED) and the RED Cloning Strategy -- Qiu-Ping Yuan, Kerstin Lindblad-Toh, and Martin Schalling -- 6 Repeat Analysis Pooled Isolation and Detection (RAPID) Cloning of Microsatellite Expansions -- Laura P. W. Ranum -- 7 DIRECT Technologies for Molecular Cloning of Genes Containing -- Expanded CAG Repeats -- Kazuhiro Sanpei, Takeshi Ikeuchi, and Shoji Tsuji -- 8 Antibody-Based Detection of CAG Repeat Expansion Containing Genes -- Yvon Trottier -- 9 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 -- 10 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 -- 11 Molecular Detection of Galactosemia Mutations by PCR-ELISA -- Kasinathan Muralidharan and Wei Zhang -- 12 Denaturing High-Performance Liquid Chromatography and Sequence Analyses for MECP2 Mutations in Rett Syndrome -- Inge M. Buyse and Benjamin B. Roa -- 13 Multiplexed Fluorescence Analysis for Mutations Causing Tay-Sachs Disease -- Tracy L. Stockley and Peter N. Ray -- 14 Single-Strand Conformational Polymorphism Analysis (SSCP) and Sequencing for Ion Channel Gene Mutations -- Kylie A. Scoggan and Dennis E. Bulman -- 15 Pulse Field Gel Electrophoresis for the Detection of Facioscapulohumeral Muscular Dystrophy Gene Rearrangements -- Luciano Felicetti and Giuliana Galluzzi -- 16 Denaturing Gradient Gel Electrophoresis (DGGE) for Mutation Detection in Duchenne Muscular Dystrophy (DMD) -- Luciana C. B. Dolinsky -- 17 Genetic Diagnosis of Charcot-Marie-Tooth Disease -- Frank Baas -- 18 Analysis of Human Mitochondrial DNA Mutations -- Antonio L. Andreu, Ramon Marti, and Michio Hirano -- 19 Detection of Mitochondrial DNA Mutations Associated with Leber Hereditary Optic Neuropathy -- Kasinathan Muralidharan -- PART IV. MOLECULAR DETECTION OF IMPRINTED GENES -- 20 PCR-Based Strategies for the Diagnosis of Prader-Willi/Angelman Syndromes -- Milen Velinov and Edmund C. Jenkins -- PART V. FLUORESCENCE IN SITU HYBRIDIZATION (FISH) -- 21 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 -- 22 Drosophila Models of Polyglutamine Diseases -- H. Y. Edwin Chan and Nancy M. Bonini -- 23 A Comparative Gene Expression Analysis of Emery-Dreifuss Muscular Dystrophy Using a cDNA Microarray -- Toshifumi Tsukahara and Kiichi Arahata -- 24 The COS-7 Cell In Vitro Paradigm to Study Myelin Proteolipid Protein 1 Gene Mutations -- Alexander Gow -- 25 In Vitro Expression Systems for the Huntington Protein -- Shi-Hua Li and Xiao-Jiang Li -- 26 Heterologous Expression of Ion Channels -- Andrew R. Tapper and Alfred L. George, Jr. -- 27 An Assay for Characterizing In Vitro the Kinetics of Polyglutamine Aggregation -- Valerie Berthelier and Ronald Wetzel -- 28 Characterization of Prion Proteins -- Wenquan Zou, Monica Colucci, Pierluigi Gambetti, -- and Shu G. Chen -- 29 Detection of NF1 Mutations Utilizing the Protein Truncation Test (PTT) -- Meena Upadhyaya, Michael Osborn, and David N. Cooper -- 30 Application of the Protein Truncation Test (PTT) for the Detection of Tuberosis Sclerosis Complex Type 1 and 2 (TSC1 and TSC2) Mutations -- Karin Mayer -- 31 Development and Characterization of Antibodies that Immunoprecipitate the FMR1 Protein -- Stephanie Ceman, Fuping Zhang, Tamika Johnson, -- and Stephen T. Warren -- 32 Immunological Methods for the Analysis of Protein Expression in Neuromuscular Diseases -- Mariz Vainzof, Maria Rita Passos-Bueno, and Mayana Zatz.