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Neurogenetics Methods and Protocols神经遗传学实验方法[Humana Press]

点击： 作者：51protocol收集 来源： 时间： 2007-03-19 　本站论坛

Methods in Molecular Biology VOLUME 217 Neurogenetics Methods and Protocols
Edited by Nicholas T. Potter 2003 Humana Press Inc.
PDF格式压缩文件，3.7M，点击此处下载内容： 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. Lücking and 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 and Rong Mao...................................................................................... 41
5 Repeat Expansion Detection (RED) and the RED Cloning Strategy
Qiu-Ping Yuan, Kerstin Lindblad-Toh, and 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, and 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, and 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 and Wei Zhang......................................................... 111
12 Denaturing High-Performance Liquid Chromatography
and Sequence Analyses for MECP2 Mutations in Rett Syndrome
Inge M. Buyse and Benjamin B. Roa................................................................... 119
viii Contents
13 Multiplexed Fluorescence Analysis for Mutations Causing
Tay-Sachs Disease
Tracy L. Stockley and Peter N. Ray..................................................................... 131
14 Single-Strand Conformational Polymorphism Analysis (SSCP)
and Sequencing for Ion Channel Gene Mutations
Kylie A. Scoggan and Dennis E. Bulman........................................................... 143
15 Pulse Field Gel Electrophoresis for the Detection of Facioscapulohumeral
Muscular Dystrophy Gene Rearrangements
Luciano Felicetti and 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 Martí, and 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 and 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 and Lisa G. Shaffer.................................................... 219
PART VI. IN VITRO EXPRESSION SYSTEMS AND STUDIES
OF PROTEIN EXPRESSION AND FUNCTION
22 Drosophila Models of Polyglutamine Diseases

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