Neurogenetics: Methods and Protocols

ISBN-13: 9781617372902 / Angielski / Miękka / 2010 / 390 str.

Nicholas T. Potter

Opis

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 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."

Recenzje

"This book provides detailed laboratory methods in its of 32 chapters. Each chapter provides sufficient detail to allow the duplication of the laboratory method. The emphasis is on neurogenetic diseases and the methods are all molecular biological including PCR, DNA sequencing, Western Blot, and Southern Blot. Diseases covered include Huntington's disease, Charcot-Marie-Tooth, Rett's Syndrome, Leber's Optic Atrophy, spinocerebellar ataxias, Parkinson's disease, and neurological mitochondrial diseases.. This is a unique and highly useful book that details laboratory methods in more detail than any comparable book. Laboratory scientists and investigators who wish to use neurogenetic laboratory methods to study these disorders will find great value in this compendium of methodologies."-Doody's Health Sciences Book Review Journal

Spis treści

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. Lücking 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® 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 Martí, 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

Blurb

The rapid identification and characterization of neurologically relevant genes holds great potential for understanding not only the pathophysiologic mechanisms of neurological diseases, but also for improving their diagnosis and management. In Neurogenetics: Methods and Protocols, an international panel of recognized academic physicians, researchers, and clinical laboratory diagnosticians describe their best methods for characterizing these genes, their mutations, and their proteins. Providing detailed step-by-step instructions to ensure 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. Each method has been thoroughly tested and includes notes on troubleshooting and avoiding pitfalls.
Comprehensive and timely, Neurogenetics: Methods and Protocols offers academic neurologists and clinical laboratory diagnosticians an authoritative collection of readily reproducible techniques that can greatly assist with the diagnosis, management, and understanding of the pathophysiologic mechanisms of neurological diseases.