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Human Genetics

, Volume 107, Issue 5, pp 488–493 | Cite as

Cheap, accurate and rapid allele frequency estimation of single nucleotide polymorphisms by primer extension and DHPLC in DNA pools

  • Bastiaan Hoogendoorn
  • Nadine Norton
  • George Kirov
  • Nigel Williams
  • Marian Hamshere
  • Gillian Spurlock
  • Jehannine Austin
  • Mark Stephens
  • Paul Buckland
  • Michael Owen
  • Michael O'Donovan
Original Investigation

Abstract.

At present, the cost of genotyping single nucleotide polymorphisms (SNPs) in large numbers of subjects poses a formidable problem for molecular genetic approaches to complex diseases. We have tested the possibility of using primer extension and denaturing high performance liquid chromatography to estimate allele frequencies of SNPs in pooled DNA samples. Our data show that this method should allow the accurate estimation of absolute allele frequencies in pooled samples of DNA and also of the difference in allele frequency between different pooled DNA samples. This technique therefore offers an efficient and cheap method for genotyping SNPs in large case-control and family-based association samples.

Keywords

Nucleotide Liquid Chromatography Single Nucleotide Polymorphism High Performance Liquid Chromatography Allele Frequency 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag 2000

Authors and Affiliations

  • Bastiaan Hoogendoorn
    • 1
  • Nadine Norton
    • 1
  • George Kirov
    • 1
  • Nigel Williams
    • 1
  • Marian Hamshere
    • 1
  • Gillian Spurlock
    • 1
  • Jehannine Austin
    • 1
  • Mark Stephens
    • 1
  • Paul Buckland
    • 1
  • Michael Owen
    • 1
  • Michael O'Donovan
    • 1
  1. 1.Department of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff, CF14 4XN, United Kingdom

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