Neurogenetics: Methods and Protocols / Edition 1

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An international panel of recognized academic physicians, researchers, and clinical laboratory diagnosticians describe their best methods for characterizing neurologically relevant genes, their mutations, and their proteins. Providing detailed step-by-step instructions to assure 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.

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Editorial Reviews

Doody's Review Service
Reviewer: Daniel B. Hier, MD (University of Illinois at Chicago College of Medicine)
Description: This is one of a continuing series of books in the Methods of Molecular Biology series that provides detailed information on molecular methods. This volume details methods used to study neurogenetic disorders.
Purpose: This is a "cookbook" designed to assist investigators and laboratory scientists who use these methods routinely in their research and diagnostic work. It is specialized to laboratory methods applicable to diagnosis of neurogenetic disorders.
Audience: This book will be of interest to neurogeneticists, neuroscientists, and molecular biologists who study neurogenetic disorders by laboratory methods.
Features: 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.
Assessment: 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.

3 Stars from Doody
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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
  • Edition number: 1
  • Pages: 390
  • Product dimensions: 0.83 (w) x 7.00 (h) x 10.00 (d)

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. Skley 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 Mihondrial DNA Mutations
Antonio L. Andreu, Ramon Martí, and Michio Hirano

Detection of Mihondrial 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

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