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Chapter 5. High-Throughput Mutation Screening

  1. Ralph Rapley3,
  2. Stuart Harbron4
  1. Paal Skytt Andersen1,
  2. Lars Allan Larsen2

Published Online: 27 SEP 2005

DOI: 10.1002/0470020202.ch5

Book Title

Molecular Analysis and Genome Discovery

Molecular Analysis and Genome Discovery

Additional Information

How to Cite

Andersen, P. S. and Larsen, L. A. (2005) High-Throughput Mutation Screening, in Molecular Analysis and Genome Discovery (eds R. Rapley and S. Harbron), John Wiley & Sons, Ltd, Chichester, UK. doi: 10.1002/0470020202.ch5

Editor Information

  1. 3

    University of Hertfordshire, UK

  2. 4

    The Enzyme Technology Consultancy, UK

Author Information

  1. 1

    Department of Clinical Biochemistry, Statens Serum Institut, Artillerivej 5, DK-2300 Copenhagen, Denmark

  2. 2

    Wilhelm Johansen Centre for Functional Genome Research, Department of Medical Genetics, IMBG, University of Copenhagen, Blegdamsvej 3, DK-2200 Copenhagen, Denmark

Publication History

  1. Published Online: 27 SEP 2005
  2. Published Print: 23 APR 2004

ISBN Information

Print ISBN: 9780471499190

Online ISBN: 9780470020203

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CHAPTER TOOLS

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Keywords:

  • short tandem repeats (STR);
  • high-density oligonucleotide arrays (HDOA);
  • molecular beacons;
  • allelic discrimination assay;
  • pyrosequencing;
  • charge coupled device (CCD);
  • capillary electrophoresis(CE);
  • single strand conformation polymorphism (SSCP);
  • denaturing high performance liquid chromatography (DHPLC)

Summary

This chapter contains sections titled:

  • Introduction

  • Automated DNA sequencing for mutation analysis

  • Methods for detection of specific mutations

  • Methods for mutation scanning

  • References

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