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Neurogenetics: Methods and Protocols / Edition 1
     

Neurogenetics: Methods and Protocols / Edition 1

by Nicholas T. Potter
 

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ISBN-10: 1617372900

ISBN-13: 9781617372902

Pub. Date: 11/10/2010

Publisher: Springer-Verlag New York, LLC

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 Prools, an international panel of recognized academic physicians, researchers, and clinical

Overview

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 Prools, 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 Prools 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.

Product Details

ISBN-13:
9781617372902
Publisher:
Springer-Verlag New York, LLC
Publication date:
11/10/2010
Series:
Methods in Molecular Biology Series , #217
Edition description:
Softcover reprint of hardcover 1st ed. 2003
Pages:
390
Product dimensions:
7.01(w) x 10.00(h) x 0.39(d)

Related Subjects

Table of 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. 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 Gene Mutations

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 Berthelier and Ronald Wetzel

Characterization of Prion Proteins

Wenquan Zou, Monica Colucci, Pierluigi Gambetti, and Shu G. Chen

Detection of NF1 Mutations Utilizing the Protein Truncation Test (PTT)

Meena Upadhyaya, Michael Osborn, and David N. Cooper

Application of the Protein Truncation Test (PTT) for the Detection of Tuberosis Sclerosis Complex Type 1 and 2 (TSC1 and TSC2) Mutations

Karin Mayer

Development and Characterization of Antibodies that Immunoprecipitate the FMR1 Protein

Stephanie Ceman, Fuping Zhang, Tamika Johnson, and Stephen T. Warren

Immunological Methods for the Analysis of Protein Expression in Neuromuscular Diseases

Mariz Vainzof, Maria Rita Passos-Bueno, and Mayana Zatz

Index

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