Guide to Mutation Detection

Dr. Graham R. Taylor is Scientific Director of the Yorkshire Regional DNA Laboratory and Technical Director of the ICRF core mutation detection facility. He also holds an appointment as senior associate lecturer at the Leeds University School of Medicine. He is organizer of the mutation detection training course program run by the Human Genome Organization. Dr. Ian N. M. Day is Lister Institute Professor and Head of the Department of Human Genetics and Director of the Human Genetics Research Division at the University of Southampton.

"…a useful tool…" (American Journal of Human Genetics, August 2005) “…an honest attempt to assemble useful and practical information within this book.” (ChemBioChem, 2005; Vol.6; 6)

• Preface. 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 Full-Coverage, High-Resolution 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. High-Throughput SNP Genotyping by Minisequencing Primer Extension Using Oligonucleotide Microarrays (Katarina Lindroos, Ulrika Liljedahl, Snaevar Sigurdsson, and Ann-Christine Syvänen).11. Mutation Databases (Rania Horaitis and Richard G. H. Cotton).12. Mass Spectrometry for High-Throughput Genotyping (Ivo Glynne Gut).13. Locus-Specific 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.