PCR Mutation Detection Protocols

1. Front Matter

   Pages i-x

   PDF

2. Agarose and Polyacrylamide Gel Electrophoresis

   • Andrea M. Guilliatt

   Pages 1-12

3. Internal Labeling of DNA Probes

   • Ralph Rapley, Bimal D. M. Theophilus

   Pages 13-15

4. End-Labeling of DNA Probes

   • Adrian J. Harwood

   Pages 17-22

5. Southern Blotting of Agarose Gels by Capillary Transfer

   • Ralph Rapley, Ian J. Williams

   Pages 23-27

6. Restriction Fragment Length Polymorphism

   • Mohammad S. Enayat

   Pages 29-35

7. PCR

   • Nicola Louise Jones

   Pages 37-46

8. Allele-Specific Oligonucleotide PCR

   • Elaine K. Green

   Pages 47-50

9. Long-Range PCR

   • Peter A. Davies, George Gray

   Pages 51-55

10. Analysis of Nucleotide Sequence Variations by Solid-Phase Minisequencing

    • Anu Wartiovaara, Ann-Christine Syvänen

    Pages 57-63

11. Cycle Sequencing of PCR Products

    • G. K. Surdhar

    Pages 65-72

12. Fluorescent In Situ Hybridization

    • Sara A. Dyer, Elaine K. Green

    Pages 73-86

13. The Protein Truncation Test

    • Carol A. Hardy

    Pages 87-108

14. Mutation Detection in Factor VIII cDNA from Lymphocytes of Hemophilia A Patients by Solid Phase Fluorescent Chemical Cleavage of Mismatch

    • Naushin H. Waseem, Richard Bagnall, Peter M. Green, Francesco Giannelli

    Pages 109-124

15. Denaturing Gradient Gel Electrophoresis

    • Yvonne Wallis

    Pages 125-135

16. Conformation-Sensitive Gel Electrophoresis

    • Ian J. Williams, Anne C. Goodeve

    Pages 137-150

17. SSCP/Heteroduplex Analysis

    • Andrew J. Wallace

    Pages 151-163

18. Cleavase® Fragment Length Polymorphism Analysis for Genotyping and Mutation Detection

    • Laura Heisler, Chao-Hung Lee

    Pages 165-178

19. Automated Genotyping Using the DNA MassArray™ Technology

    • Christian Jurinke, Dirk van den Boom, Charles R. Cantor, Hubert Köster

    Pages 179-192

20. An Introduction to Bioinformatics

    • Henry Brzeski

    Pages 193-208

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.

"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

• Department of Haematology, Birmingham Children’s Hospital NHS Trust, Birmingham, UK

  Bimal D. M. Theophilus

• Department of Biosciences, University of Hertfordshire, Hatfield, UK

  Ralph Rapley

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