PCR Mutation Detection Protocols (Methods in Molecular Biology)

1. Agarose and Polyacrylamide Gel Electrophoresis
2. Internal Labeling of DNA Probes
3. End-Labeling of DNA Probes
4. Southern Blotting of Agarose Gels by Capillary Transfer
5. Restriction Fragment Length Polymorphism
6. PCR: Principles, Procedures, and Parameters
7. Allele-Specific Oligonucleotide PCR
8. Long-Range PCR
9. Analysis of Nucleotide Sequence Variations by Solid-Phase Minisequencing Anu Wartiovaara
10. Cycle Sequencing of PCR Products
11. Fluorescent In SituHybridization
12. The Protein Truncation Test
13. Mutation Detection in Factor VIII cDNA from Lymphocytes of Hemophilia A Patients by Solid Phase Fluorescent Chemical Cleavage of Mismatch
14. Denaturing Gradient Gel Electrophoresis
15. Conformation-Sensitive Gel Electrophoresis
16. SSCP/Heteroduplex Analysis
17. Cleavase ® Fragment Length Polymorphism Analysis for Genotyping and Mutation Detection
18. Automated Genotyping Using the DNA MassArray™ Technology
19. An Introduction to Bioinformatics

1Bimal 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