Bimal D. Theophilus and Ralph Rapley 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.
The book provides access to the highly productive and readily reproducible PCR-based mutation detection methods, that are behind many of today's major scientific and medical advances. - Clinical Laboratory International
Agarose and Polyacrylamide Gel Electrophoresis. Internal Labeling of DNA Probes. End-Labeling of DNA Probes. Southern Blotting of Agarose Gels by Capillary Transfer. Restriction Fragment Length Polymorphism. PCR: Principles, Procedures, and Parameters. Allele-Specific Oligonucleotide PCR. Long-Range PCR. Analysis of Nucleotide Sequence Variations by Solid-Phase Minisequencing. Cycle Sequencing of PCR Products. Fluorescent In Situ Hybridization. The Protein Truncation Test. Mutation Detection in Factor VIII cDNA from Lymphocytes of Haemophilia A Patients by Solid Phase Fluorescent Chemical Cleavage of Mismatch. Denaturing Gradient Gel Electrophoresis. Conformation-Sensitive Gel Electrophoresis. SSCP/Heteroduplex Analysis. Cleavase Fragment Length Polymorphism Analysis for Genotyping and Mutation Detection. Automated Genotyping Using the DNA MassArray? Technology. An Introduction to Bioinformatics. Index.
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