An edition of Neurogenetics
(2003)
Neurogenetics
methods and protocols
by Nicholas T. Potter
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Subjects
Neurogenetics, Genetic disorders, Laboratory manuals, Diagnosis, Central Nervous System, Genetics, Medical Genetics, Technique, Nervous System Diseases, Inborn Genetic Diseases, Genetic Techniques, Genetic Carrier Screening, Mutation, Neurogénétique, Manuels de laboratoire, Maladies génétiques, Diagnostic, Génétique, HEALTH & FITNESS, Diseases, Genetic, MEDICAL| Edition | Availability |
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Book Details
Table of Contents
Machine generated contents note: Preface
Color Plates
Contributors
PART I. QUANTITATIVE PCR
1 Determination of Gene Dosage:
Utilization of Endogenous and Exogenous Internal Standards
Thomas W. Prior
2 Semiquantitative PCR for the Detection of Exon Rearrangements in the Parkin Gene
Christoph B. Lucking and Alexis Brice
PART II. TRINUCLEOTIDE REPEAT DETECTION
3 Detection of FMR1 Trinucleotide Repeat Expansion Mutations Using Southern Blot and PCR Methodologies
Jack Tarleton
4 Extreme Expansion Detection in Spinocerebellar Ataxia Type 2 and Type 7
Karen Snow and Rong Mao
5 Repeat Expansion Detection (RED) and the RED Cloning Strategy
Qiu-Ping Yuan, Kerstin Lindblad-Toh, and Martin Schalling
6 Repeat Analysis Pooled Isolation and Detection (RAPID) Cloning of Microsatellite Expansions
Laura P. W. Ranum
7 DIRECT Technologies for Molecular Cloning of Genes Containing
Expanded CAG Repeats
Kazuhiro Sanpei, Takeshi Ikeuchi, and Shoji Tsuji
8 Antibody-Based Detection of CAG Repeat Expansion Containing Genes
Yvon Trottier
9 Detection of Trinucleotide Repeat Containing Genes by Matrix-Assisted Laser Desorption/lonization (MALDI)
Mass Spectrometry
Chung-Hsuan Chen, Nicholas T. Potter, and Nelly T. Taranenko
10 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
11 Molecular Detection of Galactosemia Mutations by PCR-ELISA
Kasinathan Muralidharan and Wei Zhang
12 Denaturing High-Performance Liquid Chromatography and Sequence Analyses for MECP2 Mutations in Rett Syndrome
Inge M. Buyse and Benjamin B. Roa
13 Multiplexed Fluorescence Analysis for Mutations Causing Tay-Sachs Disease
Tracy L. Stockley and Peter N. Ray
14 Single-Strand Conformational Polymorphism Analysis (SSCP) and Sequencing for Ion Channel Gene Mutations
Kylie A. Scoggan and Dennis E. Bulman
15 Pulse Field Gel Electrophoresis for the Detection of Facioscapulohumeral Muscular Dystrophy Gene Rearrangements
Luciano Felicetti and Giuliana Galluzzi
16 Denaturing Gradient Gel Electrophoresis (DGGE) for Mutation Detection in Duchenne Muscular Dystrophy (DMD)
Luciana C. B. Dolinsky
17 Genetic Diagnosis of Charcot-Marie-Tooth Disease
Frank Baas
18 Analysis of Human Mitochondrial DNA Mutations
Antonio L. Andreu, Ramon Marti, and Michio Hirano
19 Detection of Mitochondrial DNA Mutations Associated with Leber Hereditary Optic Neuropathy
Kasinathan Muralidharan
PART IV. MOLECULAR DETECTION OF IMPRINTED GENES
20 PCR-Based Strategies for the Diagnosis of Prader-Willi/Angelman Syndromes
Milen Velinov and Edmund C. Jenkins
PART 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
Mansoor S. Mohammed and Lisa G. Shaffer
PART VI. IN VITRO EXPRESSION SYSTEMS AND STUDIES OF PROTEIN EXPRESSION AND FUNCTION
22 Drosophila Models of Polyglutamine Diseases
H. Y. Edwin Chan and Nancy M. Bonini
23 A Comparative Gene Expression Analysis of Emery-Dreifuss Muscular Dystrophy Using a cDNA Microarray
Toshifumi Tsukahara and Kiichi Arahata
24 The COS-7 Cell In Vitro Paradigm to Study Myelin Proteolipid Protein 1 Gene Mutations
Alexander Gow
25 In Vitro Expression Systems for the Huntington Protein
Shi-Hua Li and Xiao-Jiang Li
26 Heterologous Expression of Ion Channels
Andrew R. Tapper and Alfred L. George, Jr.
27 An Assay for Characterizing In Vitro the Kinetics of Polyglutamine Aggregation
Valerie Berthelier and Ronald Wetzel
28 Characterization of Prion Proteins
Wenquan Zou, Monica Colucci, Pierluigi Gambetti,
and Shu G. Chen
29 Detection of NF1 Mutations Utilizing the Protein Truncation Test (PTT)
Meena Upadhyaya, Michael Osborn, and David N. Cooper
30 Application of the Protein Truncation Test (PTT) for the Detection of Tuberosis Sclerosis Complex Type 1 and 2 (TSC1 and TSC2) Mutations
Karin Mayer
31 Development and Characterization of Antibodies that Immunoprecipitate the FMR1 Protein
Stephanie Ceman, Fuping Zhang, Tamika Johnson,
and Stephen T. Warren
32 Immunological Methods for the Analysis of Protein Expression in Neuromuscular Diseases
Mariz Vainzof, Maria Rita Passos-Bueno, and Mayana Zatz.
Edition Notes
Includes bibliographical references and index.
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| January 7, 2023 | Edited by MARC Bot | import existing book |
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