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InhaltsangabePreface. PART I: REVIEWS. 1. Genotype to Phenotype (Sue Malcolm). 2. Frequency and Nature of Mutations and the Methods to Detect Them (Mireille Claustres). 3. A FullCoverage, HighResolution Human Chromosome 22 Microarray for Clinical and Research Applications (Jan P. Dumanski and Patrick G. Buckley). 4. Detection of Large Heterozygous Deletions and Duplications (Mario Tosi). 5. Principles of Mutation Scanning by DHPLC (John F. Harvey). 6. Enzymatic and Chemical Cleavage Methods (Richard G. H. Cotton). 7. Quality in Mutation Detection (David E. Barton). 8. Comparison of Scanning Methods for BRCA1 Mutation Analysis (Norbert Arnold). 9. MeltMADGE: Economical Very High-Throughput Mutation Scanning Using Thermal Ramp Electrophoresis in Conjunction with MADGE (Microplate Array) Gels (Ian N. M. Day, Mohammed A. Aldahmesh, Lema Haddad, Khalid K. Alharbi, Xiao-he Chen, Hamid Rassoulian, Steve E. Humphries, Emmanuel Spanakis, and Diana Eccles). 10. HighThroughput SNP Genotyping by Minisequencing Primer Extension Using Oligonucleotide Microarrays (Katarina Lindroos, Ulrika Liljedahl, Snaevar Sigurdsson, and AnnChristine Syvänen). 11. Mutation Databases (Rania Horaitis and Richard G. H. Cotton). 12. Mass Spectrometry for High-Throughput Genotyping (Ivo Glynne Gut). 13. LocusSpecific Mutation Databases and Nomenclature Annex (Christophe Beroud). PART II: METHODS. 14. Extraction of Nucleic Acids (Graham R. Taylor). 15. Polymerase Chain Reaction and ARMS (Mark D. Robinson and Graham R. Taylor). 16. Minisequencing and Capillary Electrophoresis (Darren Cuthbert-Heavens). 17. SNP Genotyping Using Tag-Array Minisequencing (Snaevar Sigurdsson and Ann-Christine Syvänen). 18. Dynamic Allele-Specific Hybridization (Darren Cuthbert-Heavens). 19. Fluorescence Polarization SNP Detection (PerkinElmer Life Sciences, Inc.). 20. Pyrosequencing (Pyrosequencing AB). 21. Single Nucleotide Polymorphisms (SNPs) by Electronic Hybridization (Nanogen). 22. Manual SSCP and Heteroduplex Analysis Gels (Mark D. Robinson). 23. Fluorescent SSCP: Slab Gels and Capillary Electrophoresis (Lucy Jenkins and Ruth Charlton). 24. Denaturing Gradient Gel Electrophoresis (Gert de Voss). 25. Protein Truncation Test (Mark D. Robinson). 26. DHPLC (Claire F. Taylor). 27. Temperature-Gradient Capillary Electrophoresis (Spectrumedix Corp.). 28. Chemical Cleavage of Mismatch and Enzyme Mismatch Cleavage (Richard G. H. Cotton). 29. Automated Dye Terminator Sequencing (Ruth Charlton). 30. Mutation Detection with the Staden Package (James Bonfield and David Judge). 31. Gene Dosage by Semiquantitative PCR (Kim Flintoff). 32. Gene Dosage by Multiplex Amplifiable Probe Hybridization (David Cockburn and Helen Snowden). 33. Gene Dosage by Multiplex Ligatable Probe Amplification (Jan Schouten and Ruth Charlton). 34. Array CGH (Jan P. Dumanski and Patrick G. Buckley). 35. Microplate Array Diagonal Gel Electrophoresis (MADGE) (Ian N. M. Day). Index.

As genomic science and potential gene therapies continue to develop, the detection of mutations plays an increasingly central role in diverse areas of biology. With innumerable detection techniques available spanning multiple disciplines, the choice of the best method for a particular study can prove exceedingly difficult. Complexity, equipment requirements, cost, and throughput are all factors to consider, along with the huge amount of information already available through genome sequencing projects. An essential go-to for informed decision-making, the Guide to Mutation Detection is the only single source for the theory and practice of mutation analysis needed to design an experiment. User-friendly, concise, and expertly edited by recognized leaders in the field, the text provides a cutting-edge reference that is still accessible to those with no experience in mutation analysis. The coverage is divided into two sections, with the first section reviewing such topics as: * Key technologies * Mutation scanning * Cleavage * Quality control * High throughput approaches * Databases * Nomenclatures The second section focuses on step-by-step protocols and discussion of methods, including: * Tagarray minisequencing * Electronic hybridization * Pyrosequencing * Fluorescent Single-Stranded Conformation Polymorphism (SSCP) * Denaturing High-Performance Liquid Chromatography (DHPLC) * Array Comparative Genomic Hybridization (ACGH) * Microplate Array Diagonal Gel Electrophoresis (MADGE) Throughout the text, the emphasis remains on practical applications. The detailedprotocols derive from the well-regarded Human Genome Organization (HUGO) training course, particularly those in Montpellier, France, 2002, organized by Mirielle Claustres, Johan den Dunnen, and Graham Taylor. Useful appendices contain important safety data, supplier lists, and bioinformatics resources. Uptodate, user friendly, and comprehensive, the Guide to Mutation Detection is an invaluable resource for students and practitioners working across a wide range of geneticsrelated disciplines.