Human Genetics

, Volume 104, Issue 1, pp 89–93

Genotyping single nucleotide polymorphisms by primer extension and high performance liquid chromatography

  • Bastiaan Hoogendoorn
  • Michael J. Owen
  • Peter J. Oefner
  • Nigel Williams
  • Jehannine Austin
  • M. C. O’Donovan
Original investigation

DOI: 10.1007/s004390050915

Cite this article as:
Hoogendoorn, B., Owen, M., Oefner, P. et al. Hum Genet (1999) 104: 89. doi:10.1007/s004390050915

Abstract

We have investigated the possibility of genotyping single nucleotide polymorphisms (SNPs) by primer extension and high performance liquid chromatography (HPLC). Using three polymorphisms of current interest to our group (an A/G polymorphism in the proneurotensin gene and A/G and T/C polymorphisms in the 5HT2a receptor gene), we show that robust signal is obtained using this simple analytic method which has the added advantages that sample loading and analysis are essentially automated, analytic time is brief, and no further purification step after primer extension is required. We also show that all stages of the HPLC-primer extension genotyping can be multiplexed which, together with automation, suggests that this system may be suitable for linkage studies based upon emerging SNP maps.

Copyright information

© Springer-Verlag Berlin Heidelberg 1999

Authors and Affiliations

  • Bastiaan Hoogendoorn
    • 1
  • Michael J. Owen
    • 1
  • Peter J. Oefner
    • 1
  • Nigel Williams
    • 1
  • Jehannine Austin
    • 1
  • M. C. O’Donovan
    • 1
  1. 1.Division of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff CF4 4XN, UK e-mail: odonovanmc@cardiff.ac.uk, Tel.: +44-1222-743242, Fax: +44-1222-747839GB
  2. 2.Department of Genetics, Stanford University, Stanford, CA 94305, USAUS
  3. 3.Division of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF4 4XN, UKGB

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