Neurogenetics
Subtitle: methods and protocols
By: edited by Nicholas T. Potter.
Contributors: Potter, Nicholas T.
Series: Methods in molecular biology -- v. 217; Methods in molecular biology (Clifton, N.J.) -- v. 217.
Publisher: Humana Press
Published: 2003
Place of publication: Totowa, N.J
Language: eng
Number of pages: 390
Subjects: Neurogenetics -- Laboratory manuals; Genetic disorders -- Diagnosis -- Laboratory manuals
Genres: Laboratory manuals.
Notes: Includes bibliographical references and index.
Table of contents: title: Machine generated contents note: Preface; title: Color Plates; title: Contributors; title: PART I. QUANTITATIVE PCR; title: 1 Determination of Gene Dosage:; title: Utilization of Endogenous and Exogenous Internal Standards; title: Thomas W. Prior; title: 2 Semiquantitative PCR for the Detection of Exon Rearrangements in the Parkin Gene; title: Christoph B. Lucking and Alexis Brice; title: PART II. TRINUCLEOTIDE REPEAT DETECTION; title: 3 Detection of FMR1 Trinucleotide Repeat Expansion Mutations Using Southern Blot and PCR Methodologies; title: Jack Tarleton; title: 4 Extreme Expansion Detection in Spinocerebellar Ataxia Type 2 and Type 7; title: Karen Snow and Rong Mao; title: 5 Repeat Expansion Detection (RED) and the RED Cloning Strategy; title: Qiu-Ping Yuan, Kerstin Lindblad-Toh, and Martin Schalling; title: 6 Repeat Analysis Pooled Isolation and Detection (RAPID) Cloning of Microsatellite Expansions; title: Laura P. W. Ranum; title: 7 DIRECT Technologies for Molecular Cloning of Genes Containing; title: Expanded CAG Repeats; title: Kazuhiro Sanpei, Takeshi Ikeuchi, and Shoji Tsuji; title: 8 Antibody-Based Detection of CAG Repeat Expansion Containing Genes; title: Yvon Trottier; title: 9 Detection of Trinucleotide Repeat Containing Genes by Matrix-Assisted Laser Desorption/lonization (MALDI); title: Mass Spectrometry; title: Chung-Hsuan Chen, Nicholas T. Potter, and Nelly T. Taranenko; title: 10 Fluorescence PCR and GeneScan Analysis for the Detection of CAG Repeat Expansions Associated with Huntington's Disease; title: Cindy L. Vnencak-Jones; title: PART III. SEQUENCE-BASED MUTATION DETECTION; title: 11 Molecular Detection of Galactosemia Mutations by PCR-ELISA; title: Kasinathan Muralidharan and Wei Zhang; title: 12 Denaturing High-Performance Liquid Chromatography and Sequence Analyses for MECP2 Mutations in Rett Syndrome; title: Inge M. Buyse and Benjamin B. Roa; title: 13 Multiplexed Fluorescence Analysis for Mutations Causing Tay-Sachs Disease; title: Tracy L. Stockley and Peter N. Ray; title: 14 Single-Strand Conformational Polymorphism Analysis (SSCP) and Sequencing for Ion Channel Gene Mutations; title: Kylie A. Scoggan and Dennis E. Bulman; title: 15 Pulse Field Gel Electrophoresis for the Detection of Facioscapulohumeral Muscular Dystrophy Gene Rearrangements; title: Luciano Felicetti and Giuliana Galluzzi; title: 16 Denaturing Gradient Gel Electrophoresis (DGGE) for Mutation Detection in Duchenne Muscular Dystrophy (DMD); title: Luciana C. B. Dolinsky; title: 17 Genetic Diagnosis of Charcot-Marie-Tooth Disease; title: Frank Baas; title: 18 Analysis of Human Mitochondrial DNA Mutations; title: Antonio L. Andreu, Ramon Marti, and Michio Hirano; title: 19 Detection of Mitochondrial DNA Mutations Associated with Leber Hereditary Optic Neuropathy; title: Kasinathan Muralidharan; title: PART IV. MOLECULAR DETECTION OF IMPRINTED GENES; title: 20 PCR-Based Strategies for the Diagnosis of Prader-Willi/Angelman Syndromes; title: Milen Velinov and Edmund C. Jenkins; title: PART V. FLUORESCENCE IN SITU HYBRIDIZATION (FISH); title: 21 Fluorescence In Situ Hybridization (FISH) for Identifying the Genomic Rearrangements Associated with Three Myelinopathies:; title: Charcot-Marie-Tooth Disease, Hereditary Neuropathy with Liability to Pressure Palsies, and Pelizaeus-Merzbacher Disease; title: Mansoor S. Mohammed and Lisa G. Shaffer; title: PART VI. IN VITRO EXPRESSION SYSTEMS AND STUDIES OF PROTEIN EXPRESSION AND FUNCTION; title: 22 Drosophila Models of Polyglutamine Diseases; title: H. Y. Edwin Chan and Nancy M. Bonini; title: 23 A Comparative Gene Expression Analysis of Emery-Dreifuss Muscular Dystrophy Using a cDNA Microarray; title: Toshifumi Tsukahara and Kiichi Arahata; title: 24 The COS-7 Cell In Vitro Paradigm to Study Myelin Proteolipid Protein 1 Gene Mutations; title: Alexander Gow; title: 25 In Vitro Expression Systems for the Huntington Protein; title: Shi-Hua Li and Xiao-Jiang Li; title: 26 Heterologous Expression of Ion Channels; title: Andrew R. Tapper and Alfred L. George, Jr.; title: 27 An Assay for Characterizing In Vitro the Kinetics of Polyglutamine Aggregation; title: Valerie Berthelier and Ronald Wetzel; title: 28 Characterization of Prion Proteins; title: Wenquan Zou, Monica Colucci, Pierluigi Gambetti,; title: and Shu G. Chen; title: 29 Detection of NF1 Mutations Utilizing the Protein Truncation Test (PTT); title: Meena Upadhyaya, Michael Osborn, and David N. Cooper; title: 30 Application of the Protein Truncation Test (PTT) for the Detection of Tuberosis Sclerosis Complex Type 1 and 2 (TSC1 and TSC2) Mutations; title: Karin Mayer; title: 31 Development and Characterization of Antibodies that Immunoprecipitate the FMR1 Protein; title: Stephanie Ceman, Fuping Zhang, Tamika Johnson,; title: and Stephen T. Warren; title: 32 Immunological Methods for the Analysis of Protein Expression in Neuromuscular Diseases; title: Mariz Vainzof, Maria Rita Passos-Bueno, and Mayana Zatz.