Neurogenetics: Methods and Protocols / Edition 1

Neurogenetics: Methods and Protocols / Edition 1

by Nicholas T. Potter
     
 

View All Available Formats & Editions

ISBN-10: 0896039900

ISBN-13: 9780896039902

Pub. Date: 10/09/2002

Publisher: Springer-Verlag New York, LLC

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

Overview

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.

Product Details

ISBN-13:
9780896039902
Publisher:
Springer-Verlag New York, LLC
Publication date:
10/09/2002
Series:
Methods in Molecular Biology Series, #217
Edition description:
2003
Pages:
390
Product dimensions:
7.01(w) x 10.00(h) x 0.04(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 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

Customer Reviews

Average Review:

Write a Review

and post it to your social network

     

Most Helpful Customer Reviews

See all customer reviews >