Library Science

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. Ed. Potter, Nicholas T.

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Table of Contents

1. Determination of Gene Dosage: Utilization of Endogenous and Exogenous Internal Standards (pp. 03-12)
   Prior, Thomas W.
2. Semiquantitative PCR for the Detection of Exon Rearrangements in the Parkin Gene (pp. 13-26)
   Lucking, Christoph B.; Brice, Alexis
3. Detection of FMR1 Trinucleotide Repeat Expansion Mutations Using Southern Blot and PCR Methodologies (pp. 29-40)
   Tarleton, Jack
4. Extreme Expansion Detection in Spinocerebellar Ataxia Type 2 and Type 7 (pp. 41-50)
   Snow, Karen; Mao, Rong
5. Repeat Expansion Detection (RED) and the RED Cloning Strategy (pp. 51-60)
   Yuan, Qiu-Ping; Lindblad-Toh, Kerstin; Schalling, Martin
6. Repeat Analysis Pooled Isolation and Detection (RAPID) Cloning of Microsatellite Expansions (pp. 61-72)
   Ranum, Laura P. W.
7. DIRECT Technologies for Molecular Cloning of Genes Containing Expanded CAG Repeats (pp. 73-82)
   Sanpei, Kazuhiro; Ikeuchi, Takeshi; Tsuji, Shoji
8. Antibody-Based Detection of CAG Repeat Expansion Containing Genes (pp. 83-90)
   Trottier, Yvon
9. Detection of Trinucleotide Repeat Containing Genes by Matrix-Assisted Laser Desorption/Ionization (MALDI) Mass Spectrometry (pp. 91-100)
   Chen, Chung-Hsuan; Potter, Nicholas T.; Taranenko, Nelly T.
10. Fluorescence PCR and GeneScan® Analysis for the Detection of CAG Repeat Expansions Associated with Huntington’s Disease (pp. 101-108)
    Vnencak-Jones, Cindy L.
11. Molecular Detection of Galactosemia Mutations by PCR-ELISA (pp. 111-118)
    Muralidharan, Kasinathan; Zhang, Wei
12. Denaturing High-Performance Liquid Chromatography and Sequence Analyses for MECP2 Mutations in Rett Syndrome (pp. 119-130)
    Buyse, Inge M.; Roa, Benjamin B.
13. Multiplexed Fluorescence Analysis for Mutations Causing Tay-Sachs Disease (pp. 131-142)
    Stockley, Tracy L.; Ray, Peter N.
14. Single-Strand Conformational Polymorphism Analysis (SSCP) and Sequencing for Ion Channel Gene Mutations (pp. 143-152)
    Scoggan, Kylie A.; Bulman, Dennis E.
15. Pulse Field Gel Electrophoresis for the Detection of Facioscapulohumeral Muscular Dystrophy Gene Rearrangements (pp. 153-164)
    Felicetti, Luciano; Galluzzi, Giuliana
16. Denaturing Gradient Gel Electrophoresis (DGGE) for Mutation Detection in Duchenne Muscular Dystrophy (DMD) (pp. 165-176)
    Dolinsky, Luciana C. B.
17. Genetic Diagnosis of Charcot-Marie-Tooth Disease (pp. 177-184)
    Baas, Frank
18. Analysis of Human Mitochondrial DNA Mutations (pp. 185-198)
    Andreu, Antonio L.; Marti, Ramon; Hirano, Michio
19. Detection of Mitochondrial DNA Mutations Associated with Leber Hereditary Optic Neuropathy (pp. 199-206)
    Muralidharan, Kasinathan
20. PCR-Based Strategies for the Diagnosis of Prader-Willi/Angelman Syndromes (pp. 209-216)
    Velinov, Milen; Jenkins, Edmund C.
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 (pp. 219-238)
    Mohammed, Mansoor S.; Shaffer, Lisa G.
22. Drosophila Models of Polyglutamine Diseases (pp. 241-252)
    Chan, H. Y. Edwin; Bonini, Nancy M.
23. A Comparative Gene Expression Analysis of Emery-Dreifuss Muscular Dystrophy Using a cDNA Microarray (pp. 253-262)
    Tsukahara, Toshifumi; Arahata, Kiichi
24. The COS-7 Cell In Vitro Paradigm to Study Myelin Proteolipid Protein 1 Gene Mutations (pp. 263-276)
    Gow, Alexander
25. In Vitro Expression Systems for the Huntington Protein (pp. 277-284)
    Li, Shi-Hua; Li, Xiao-Jiang
26. Heterologous Expression of Ion Channels (pp. 285-294)
    Tapper, Andrew R.; George, Alfred L.
27. An Assay for Characterizing In Vitro the Kinetics of Polyglutamine Aggregation (pp. 295-304)
    Berthelier, Valerie; Wetzel, Ronald
28. Characterization of Prion Proteins (pp. 305-314)
    Zou, Wenquan; Colucci, Monica; Gambetti, Pierluigi; Chen, Shu G.
29. Detection of NF1 Mutations Utilizing the Protein Truncation Test (PTT) (pp. 315-328)
    Upadhyaya, Meena; Osborn, Michael; Cooper, David N.
30. Application of the Protein Truncation Test (PTT) for the Detection of Tuberosis Sclerosis Complex Type 1 and 2 (TSC1 and TSC2) Mutations (pp. 329-344)
    Mayer, Karin
31. Development and Characterization of Antibodies that Immunoprecipitate the FMR1 Protein (pp. 345-354)
    Ceman, Stephanie; Zhang, Fuping; Johnson, Tamika; Warren, Stephen T.
32. Immunological Methods for the Analysis of Protein Expression in Neuromuscular Diseases (pp. 355-378)
    Vainzof, Mariz; Passos-Bueno, Maria Rita; Zatz, Mayana

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