Neurogenetics : methods and protocols /
| Other Authors: | |
|---|---|
| Format: | Book |
| Language: | English |
| Published: |
Totowa, N.J. :
Humana Press,
[2003]
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| Series: | Methods in molecular biology (Clifton, N.J.) ;
v. 217. |
| Subjects: |
Table of Contents:
- Determination of gene dosage: utilization of endogenous and exogenous internal standards
- Semiquantitative PCR for the detection of exon rearrangements in the parkin gene
- Detection of FMR1 trinucleotide repeat expansion mutations using southern blot and PCR methodologies
- Extreme expansion detection in spioncerebellar ataxia type 2 and type 7
- Repeat expansion detection (RED) and the RED cloning strategy
- Repeat analysis pooled isolation and detection (RAPID) cloning of microsatellite expansions
- DIRECT technologies for molecular cloning of genes containing expanded CAG repeats
- Antibody-based detection of CAG repeat expansion containing genes
- Detection of trinucleotide repeat containing genes by matrix-assisted laser desorption/ionization (MALDI) mass spectrometry
- Fluorescence PCR and genescan analysis for the detection of CAG repeat expansions associated with Huntington's disease
- Molecular detection of galactosemia mutations by PCR-ELISA
- Denaturing high-performance liquid chromatography and sequence analyses for MECP2 mutations in Rett syndrome
- Mutiplexed fluorescence analysis for mutations causing Tay-Sachs disease
- Single-strand conformational polymorphism analysis (SSCP) and sequencing for ion channel gene mutations
- Pulse field gel electrophoresis for the detection of facioscapulohumeral muscular dystrophy gene rearrangements
- Denaturing gradient gel electrophoresis (DGGE) for mutation detection in Duchenne muscular dystrophy (DMD)
- Genetic diagnosis of Charcot-Marie-Tooth disease
- Analysis of human mitochondrial DNA mutations
- Detection of mitochondrial DNA mutations associated with Leber Hereditary Neuropathy
- PCR-based strategies for the diagnosis of Prader-Willi/Angelman syndromes
- Fluorescence in situ hybridization for identifying the genomic rearrangements associated with three myelinopathies : Charcot-Marie-Tooth disease, hereditary neuropathy with liability to pressure palsies, and Pelizaeus-Merzbacher disease
- Drosophila models of polyglutamine diseases
- A comparative gene expression analysis of Emery-Dreifus muscular dystrophy using a cDNA microarray
- The COS-7 cell in vitro paradigm to study myelin proteolipid protein 1 gene mutations
- In vitro expression systems for the Huntington protein
- Heterologous expression of ion channels
- An assay for characterizing in vitro the kinetics of polyglutamine aggregation
- Characterization of prion proteins
- Detection of NF1 mutations utilizing the protein truncation test (PTT)
- Application of the protein truncation test (PTT) for the detection of tuberosis sclerosis complex type 1 and 2 (TSC1 and TSC2) mutations
- Development and characterization of antibodies that immunoprecipitate the FMR1 protein
- Immunological methods for the analysis of protein expression in neuromuscular diseases