PCR mutation detection protocols (Methods in Molecular Biology, vol. 187)

The authors provide biological and clinical investigators with a comprehensive collection of new, recent, and updated PCR-based screening methods suitable for detecting the presence of both known and novel mutations. The methods cover point mutations (e.g., ASO-PCR, SSCP, DGGE, chemical cleavage), deletions (multiplex PCR, FISH, blotting), non-sense mutations (PTT), and more. The new and exciting techniques of DNA array analysis, along with such recently developed experimental methods as conformation-sensitive gel electrophoresis, are also included. Each chapter explains the basic theory behind the technique and provides valuable notes essential for its successful execution.

Agarose and Polyacrylamide Gel ElectrophoresisAndrea M. GuilliattInternal Labeling of DNA ProbesRalph Rapley and Bimal D. M. TheophilusEnd-Labeling of DNA ProbesAdrian J. HarwoodSouthern Blotting of Agarose Gels by Capillary TransferRalph Rapley and Ian J. WilliamsRestriction Fragment Length PolymorphismMohammad S. EnayatPCR: Principle. Procedure. and ParametersNicola Louise JonesAllele-Specific Oligonucleotide PCRElaine K. GreenLong-Range PC.Peter A. Davies and George GrayAnalysis of Nucleotide Sequence Variations by Solid-Phase MinisequencingAnu Wartiovaara and Ann-Christine SyvänenCycle Sequencing of PCR ProductsG. K. SurdharFluorescent In Situ HybridizationSara A. Dyer and Elaine K. Green.The Protein Truncation TestCarol A. HardyMutation Detection in Factor VIII cDNA from Lymphocytes of Haemophilia A Patients by Solid Phase Fluorescent Chemical Cleavage of MismatchNaushin H. Wasee. Richard Bagnal. Peter M. Gree. and Francesco GiannelliDenaturing Gradient Gel ElectrophoresisYvonne WallisConformation-Sensitive Gel ElectrophoresisIan J. Williams and Anne C. GoodeveSSCP/Heteroduplex AnalysisAndrew J. WallaceCleavase® Fragment Length Polymorphism Analysis for Genotyping and Mutation DetectionLaura Heisler and Chao-Hung LeeAutomated Genotyping Using the DNA MassArray™ TechnologyChristian Jurink. Dirk van den Boo. Charles R. Canto. and Hubert KosterAn Introduction to BioinformaticsHenry Brzeski