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Main description:
The rapid identification and characterization of genes of neurological relevance holds great potential for offering insight into the diagnosis, management, and und- standing of the pathophysiologic mechanisms of neurological diseases. This volume in the Methods in Molecular Biology (TM) series was conceived to highlight many of the contemporary methodological approaches utilized for the characterization of neu- logically relevant gene mutations and their protein products. Although an emphasis has been placed upon descriptions of methodologies with a defined clinical utility, it is hoped that Neurogenetics: Methods and Protocols will appeal not only to clinical laboratory diagnosticians, but also to clinicians, and to biomedical researchers with an interest in advances in disease diagnosis and the functional consequences of neu- logically relevant gene mutations. To meet this challenge, more than 60 authors graciously accepted my invitation to contribute to the 32 chapters of this book. Through their collective commitment and diligence, what has emerged is a comprehensive and timely treatise that covers many methodological aspects of mutation detection and screening, including disc- sions on quantitative PCR, trinucleotide repeat detection, sequence-based mutation detection, molecular detection of imprinted genes, fluorescence in situ hybridization (FISH), in vitro protein expression systems, and studies of protein expression and function. I would like to take this opportunity to formally thank my colleagues for their effort and dedication to this work.
Contents:
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/Ionization (MALDI) Mass Spectrometry
Chung-Hsuan Chen, Nicholas T. Potter, and Nelly T. Taranenko
Fluorescence PCR and GeneScan (R) 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 GeneMutations
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
PRODUCT DETAILS
Publisher: Springer (Humana Press Inc.)
Publication date: November, 2010
Pages: 406
Weight: 765g
Availability: Available
Subcategories: Neuroscience
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