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: 9780896039902
  • Publisher: Springer-Verlag New York, LLC
  • Publication date: 10/9/2002
  • Series: Methods in Molecular Biology Series , #217
  • Edition description: 2003
  • Edition number: 1
  • Pages: 390
  • Product dimensions: 7.70 (w) x 9.80 (h) x 0.98 (d)

Table of Contents

Color Plates
Pt. I Quantitative PCR
1 Determination of Gene Dosage: Utilization of Endogenous and Exogenous Internal Standards 3
2 Semiquantitative PCR for the Detection of Exon Rearrangements in the Parkin Gene 13
Pt. II Trinucleotide Repeat Detection
3 Detection of FMR1 Trinucleotide Repeat Expansion Mutations Using Southern Blot and PCR Methodologies 29
4 Extreme Expansion Detection in Spinocerebellar Ataxia Type 2 and Type 7 41
5 Repeat Expansion Detection (RED) and the RED Cloning Strategy 51
6 Repeat Analysis Pooled Isolation and Detection (RAPID) Cloning of Microsatellite Expansions 61
7 DIRECT Technologies for Molecular Cloning of Genes Containing Expanded CAG Repeats 73
8 Antibody-Based Detection of CAG Repeat Expansion Containing Genes 83
9 Detection of Trinucleotide Repeat Containing Genes by Matrix-Assisted Laser Desorption/Ionization (MALDI) Mass Spectrometry 91
10 Fluorescence PCR and GeneScan Analysis for the Detection of CAG Repeat Expansions Associated with Huntington's Disease 101
Pt. III Sequence-Based Mutation Detection
11 Molecular Detection of Galactosemia Mutations by PCR-ELISA 111
12 Denaturing High-Performance Liquid Chromatography and Sequence Analyses for MECP2 Mutations in Rett Syndrome 119
13 Multiplexed Fluorescence Analysis for Mutations Causing Tay-Sachs Disease 131
14 Single-Strand Conformational Polymorphism Analysis (SSCP) and Sequencing for Ion Channel Gene Mutations 143
15 Pulse Field Gel Electrophoresis for the Detection of Facioscapulohumeral Muscular Dystrophy Gene Rearrangements 153
16 Denaturing Gradient Gel Electrophoresis (DGGE) for Mutation Detection in Duchenne Muscular Dystrophy (DMD) 165
17 Genetic Diagnosis of Charcot-Marie-Tooth Disease 177
18 Analysis of Human Mitochondrial DNA Mutations 185
19 Detection of Mitochondrial DNA Mutations Associated with Leber Hereditary Optic Neuropathy 199
Pt. IV Molecular Detection of Imprinted Genes
20 PCR-Based Strategies for the Diagnosis of Prader-Willi/Angelman Syndromes 209
Pt. V Fluorescence In Situ Hybridization (FISH)
21 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 219
Pt. VI In Vitro Expression Systems and Studies of Protein Expression and Function
22 Drosophila Models of Polyglutamine Diseases 241
23 A Comparative Gene Expression Analysis of Emery-Dreifuss Muscular Dystrophy Using a cDNA Microarray 253
24 The COS-7 Cell In Vitro Paradigm to Study Myelin Proteolipid Protein 1 Gene Mutations 263
25 In Vitro Expression Systems for the Huntington Protein 277
26 Heterologous Expression of Ion Channels 285
27 An Assay for Characterizing In Vitro the Kinetics of Polyglutamine Aggregation 295
28 Characterization of Prion Proteins 305
29 Detection of NF1 Mutations Utilizing the Protein Truncation Test (PTT) 315
30 Application of the Protein Truncation Test (PTT) for the Detection of Tuberosis Sclerosis Complex Type 1 and 2 (TSC1 and TSC2) Mutations 329
31 Development and Characterization of Antibodies that Immunoprecipitate the FMR1 Protein 345
32 Immunological Methods for the Analysis of Protein Expression in Neuromuscular Diseases 355
Index 379
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