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

B. Hoogendoorn, N. Norton, G. Kirov, N. Williams, M. L. Hamshere, G. Spurlock, J. Austin, M. K. Stephens, P. R. Buckland, M. J. Owen, M. C. O'Donovan

Research output: Contribution to journalArticle

145 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)488-493
Number of pages6
JournalHuman genetics
Volume107
Issue number5
DOIs
StatePublished - Dec 1 2000

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Hoogendoorn, B., Norton, N., Kirov, G., Williams, N., Hamshere, M. L., Spurlock, G., Austin, J., Stephens, M. K., Buckland, P. R., Owen, M. J., & O'Donovan, M. C. (2000). Cheap, accurate and rapid allele frequency estimation of single nucleotide polymorphisms by primer extension and DHPLC in DNA pools. Human genetics, 107(5), 488-493. https://doi.org/10.1007/s004390000397