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

Contributor(s): Potter, Nicholas T
Material type: TextTextSeries: Methods in molecular biology (Clifton, N.J.): v. 217.Publisher: Totowa, N.J. : Humana Press, ©2003Description: 1 online resource (xiii, 390 pages) : illustrations (some color)Content type: text Media type: computer Carrier type: online resourceISBN: 9781592593309; 1592593305; 1280842148; 9781280842146; 9786610842148; 6610842140Subject(s): Neurogenetics -- Laboratory manuals | Genetic disorders -- Diagnosis -- Laboratory manuals | Nervous System Diseases -- genetics | Genetic Diseases, Inborn -- diagnosis | Genetic Techniques | Genetic Carrier Screening | Mutation -- genetics | HEALTH & FITNESS -- Diseases -- Genetic | MEDICAL -- Genetics | Genetic disorders -- Diagnosis | Neurogenetics | neurologie | neurology | genetica | genetics | polymerase chain reaction | dna cloning | mutaties | mutations | Molecular Biology (General) | Genetics (General) | Moleculaire biologie (algemeen) | Genetica (algemeen)Genre/Form: Electronic books. | Laboratory manuals. Additional physical formats: Print version:: Neurogenetics.DDC classification: 616/.042 LOC classification: QP356.22 | .N485 2003ebOnline resources: Click here to access online
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. Lucking 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/lonization (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 Gene Mutations / 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 Marti, 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 Berthelier and Ronald Wetzel -- Characterization of Prion Proteins / Wenquan Zou [and others] -- Detection of NF1 Mutations Utilizing the Protein Truncation Test (PTT) / Meena Upadhyaya, Michael Osborn, and David N. Cooper -- Application of the Protein Truncation Test (PTT) for the Detection of Tuberosis Sclerosis Complex Type 1 and 2 (TSC1 and TSC2) Mutations / Karin Mayer -- Development and Characterization of Antibodies that Immunoprecipitate the FMR1 Protein / Stephanie Ceman [and others] -- Immunological Methods for the Analysis of Protein Expression in Neuromuscular Diseases / Mariz Vainzof, Maria Rita Passos-Bueno, and Mayana Zatz.
In: Springer ProtocolsAbstract: An international panel of 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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Includes bibliographical references and index.

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. Lucking 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/lonization (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 Gene Mutations / 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 Marti, 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 Berthelier and Ronald Wetzel -- Characterization of Prion Proteins / Wenquan Zou [and others] -- Detection of NF1 Mutations Utilizing the Protein Truncation Test (PTT) / Meena Upadhyaya, Michael Osborn, and David N. Cooper -- Application of the Protein Truncation Test (PTT) for the Detection of Tuberosis Sclerosis Complex Type 1 and 2 (TSC1 and TSC2) Mutations / Karin Mayer -- Development and Characterization of Antibodies that Immunoprecipitate the FMR1 Protein / Stephanie Ceman [and others] -- Immunological Methods for the Analysis of Protein Expression in Neuromuscular Diseases / Mariz Vainzof, Maria Rita Passos-Bueno, and Mayana Zatz.

Print version record.

An international panel of 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.

English.

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