Neurogenetics: Methods and Protocols Book

	Preface
	Color Plates
	Contributors
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