Single Nucleotide Polymorphisms

Methods and Protocols

  • Pui-Yan Kwok

Part of the Methods in Molecular Biology™ book series (MIMB, volume 212)

Table of contents

  1. Front Matter
    Pages i-xi
  2. Lisa D. Brooks
    Pages 1-14
  3. Andreas Premstaller, Peter J. Oefner
    Pages 15-35
  4. Tomoko Tahira, Akari Suzuki, Yoji Kukita, Kenshi Hayashi
    Pages 37-46
  5. Arupa Ganguly
    Pages 47-58
  6. Chinh T. Bui, Jeffrey J. Babon, Andreana Lambrinakos, Richard G. H. Cotton
    Pages 59-70
  7. Pui-Yan Kwok, Shenghui Duan
    Pages 71-84
  8. Salvatore A. E. Marras, Fred Russell Kramer, Sanjay Tyagi
    Pages 111-128
  9. Kenneth J. Livak
    Pages 129-147
  10. Katarina Lindroos, Ulrika Liljedahl, Ann-Christine Syvänen
    Pages 149-165
  11. Charlotta Olsson, Ulrika Liljedahl, Ann-Christine Syvänen
    Pages 167-176
  12. Mostafa Ronaghi
    Pages 189-195
  13. Søren Germer, Russell Higuchi
    Pages 197-214
  14. Jonas Jarvius, Mats Nilsson, Ulf Landegren
    Pages 215-228
  15. Victor Lyamichev, Bruce Neri
    Pages 229-240
  16. Niels Storm, Brigitte Darnhofer-Patel
    Pages 241-262
  17. Back Matter
    Pages 263-269

About this book


Single nucleotide polymorphisms (SNPs) have become the markers of choice in elucidating the relationship between DNA sequence variation and susceptibility to disease and have clearly become the focus of the next phase of the human genome project. In Single Nucleotide Polymorphisms: Methods and Protocols, Pui-Yan Kwok, MD, PhD, has assembled a collection of robust techniques for the difficult process of SNP discovery and genotyping. These cutting-edge protocols for mutation/SNP detection utilize denaturing high-performance liquid chromatography (dHPLC), single-strand conformation polymorphism (SSCP), conformation-sensitive gel electrophoresis (CSGE), chemical cleavage, and direct sequencing. Equally powerful and up-to-date methods are given for genotyping SNPs, including molecular beacons, the Taqman assay, single-base extension approaches, pyrosequencing, ligation, the Invader assay, and primer extension with mass spectrometry detection. Described in step-by-step detail by their inventors, each method provides extensive notes on the technical steps critical for experimental success, time-saving techniques, and tips on avoiding pitfalls.
Comprehensive and authoritative, Single Nucleotide Polymorphisms: Methods and Protocols provides in a readily reproducible format all the major SNP discovery and genotyping techniques in use today, whether for using DNA diagnostics to identify a pathogen, for studying the genetic basis of human disease, or for molecular breeding programs in agriculture.

Editors and affiliations

  • Pui-Yan Kwok
    • 1
  1. 1.Cardiovascular Research Institute and Department of DermatologyUniversity of California, San FranciscoSan FranciscoUSA

Bibliographic information

  • DOI
  • Copyright Information Humana Press 2003
  • Publisher Name Springer, Totowa, NJ
  • eBook Packages Springer Protocols
  • Print ISBN 978-0-89603-968-1
  • Online ISBN 978-1-59259-327-9
  • Series Print ISSN 1064-3745
  • Series Online ISSN 1940-6029
  • Buy this book on publisher's site
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