Neurogenetics : methods and protocols / edited by Nicholas T. Potter.

Format:

Book

Contributor:

Potter, Nicholas T.

Series:

Methods in molecular biology (Clifton, N.J.) ; v. 217.

Methods in molecular biology ; v. 217

Language:

English

Subjects (All):

Neurogenetics--Laboratory manuals.

Neurogenetics.

Genetic disorders--Diagnosis--Laboratory manuals.

Genetic disorders.

Genetic Engineering.

Genetic disorders--Diagnosis.

Genetics, Medical.

Nervous System Diseases--genetics.

Medical Subjects:

Genetic Engineering.

Genetics, Medical.

Nervous System Diseases--genetics.

Genre:

Laboratory manuals.

Physical Description:

xiii, 390 pages : illustrations (some color) ; 26 cm.

Place of Publication:

Totowa, N.J. : Humana Press, [2003]

Summary:

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.

Contents:

Part I. Quantitative PCR

1 Determination of Gene Dosage: Utilization of Endogenous and Exogenous Internal Standards / Thomas W. Prior 3

2 Semiquantitative PCR for the Detection of Exon Rearrangements in the Parkin Gene / Christoph B. Lucking, Alexis Brice 13

Part II. Trinucleotide Repeat Detection

3 Detection of FMR1 Trinucleotide Repeat Expansion Mutations Using Southern Blot and PCR Methodologies / Jack Tarleton 29

4 Extreme Expansion Detection in Spinocerebellar Ataxia Type 2 and Type 7 / Karen Snow, Rong Mao 41

5 Repeat Expansion Detection (RED) and the RED Cloning Strategy / Qiu-Ping Yuan, Kerstin Lindblad-Toh, Martin Schalling 51

6 Repeat Analysis Pooled Isolation and Detection (RAPID) Cloning of Microsatellite Expansions / Laura P. W. Ranum 61

7 DIRECT Technologies for Molecular Cloning of Genes Containing Expanded CAG Repeats / Kazuhiro Sanpei, Takeshi Ikeuchi, Shoji Tsuji 73

8 Antibody-Based Detection of CAG Repeat Expansion Containing Genes / Yvon Trottier 83

9 Detection of Trinucleotide Repeat Containing Genes by Matrix-Assisted Laser Desorption/Ionization (MALDI) Mass Spectrometry / Chung-Hsuan Chen, Nicholas T. Potter, Nelly T. Taranenko 91

10 Fluorescence PCR and GeneScan Analysis for the Detection of CAG Repeat Expansions Associated with Huntington's Disease / Cindy L. Vnencak-Jones 101

Part III. Sequence-Based Mutation Detection

11 Molecular Detection of Galactosemia Mutations by PCR-ELISA / Kasinathan Muralidharan, Wei Zhang 111

12 Denaturing High-Performance Liquid Chromatography and Sequence Analyses for MECP2 Mutations in Rett Syndrome / Inge M. Buyse, Benjamin B. Roa 119

13 Multiplexed Fluorescence Analysis for Mutations Causing Tay-Sachs Disease / Tracy L. Stockley, Peter N. Ray 131

14 Single-Strand Conformational Polymorphism Analysis (SSCP) and Sequencing for Ion Channel Gene Mutations / Kylie A. Scoggan, Dennis E. Bulman 143

15 Pulse Field Gel Electrophoresis for the Detection of Facioscapulohumeral Muscular Dystrophy Gene Rearrangements / Luciano Felicetti, Giuliana Galluzzi 153

16 Denaturing Gradient Gel Electrophoresis (DGGE) for Mutation Detection in Duchenne Muscular Dystrophy (DMD) / Luciana C. B. Dolinsky 165

17 Genetic Diagnosis of Charcot-Marie-Tooth Disease / Frank Baas 177

18 Analysis of Human Mitochondrial DNA Mutations / Antonio L. Andreu, Ramon Marti, Michio Hirano 185

19 Detection of Mitochondrial DNA Mutations Associated with Leber Hereditary Optic Neuropathy / Kasinathan Muralidharan 199

Part IV. Molecular Detection of Imprinted Genes

20 PCR-Based Strategies for the Diagnosis of Prader-Willi/Angelman Syndromes / Milen Velinov, Edmund C. Jenkins 209

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, Lisa G. Shaffer 219

Part VI. In Vitro Expression Systems and Studies of Protein Expression and Function

22 Drosophila Models of Polyglutamine Diseases / H.Y. Edwin Chan, Nancy M. Bonini 241

23 A Comparative Gene Expression Analysis of Emery-Dreifuss Muscular Dystrophy Using a cDNA Microarray / Toshifumi Tsukahara, Kiichi Arahata 253

24 The COS-7 Cell In Vitro Paradigm to Study Myelin Proteolipid Protein 1 Gene Mutations / Alexander Gow 263

25 In Vitro Expression Systems for the Huntington Protein / Shi-Hua Li, Xiao-Jiang Li 277

26 Heterologous Expression of Ion Channels / Andrew R. Tapper, Alfred L. George, Jr. 285

27 An Assay for Characterizing In Vitro the Kinetics of Polyglutamine Aggregation / Valerie Berthelier, Ronald Wetzel 295

28 Characterization of Prion Proteins / Wenquan Zou, Monica Colucci, Pierluigi Gambetti, Shu G. Chen 305

29 Detection of NF1 Mutations Utilizing the Protein Truncation Test (PTT) / Meena Upadhyaya, Michael Osborn, David N. Cooper 315

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 329

31 Development and Characterization of Antibodies that Immunoprecipitate the FMR1 Protein / Stephanie Ceman, Fuping Zhang, Tamika Johnson, Stephen T. Warren 345

32 Immunological Methods for the Analysis of Protein Expression in Neuromuscular Diseases / Mariz Vainzof, Maria Rita Passos-Bueno, Mayana Zatz 355.

Notes:

Includes bibliographical references and index.

ISBN:

0896039900

OCLC:

49820862