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

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.

Access this article

Log in via an institution

Subscribe and save

• Get 10 units per month
• Download Article/Chapter or eBook
• 1 Unit = 1 Article or 1 Chapter
• Cancel anytime Subscribe now

Buy Now

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

Author information

Authors and Affiliations

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

Authors

1. Bastiaan Hoogendoorn
   You can also search for this author inPubMed Google Scholar
2. Nadine Norton
   You can also search for this author inPubMed Google Scholar
3. George Kirov
   You can also search for this author inPubMed Google Scholar
4. Nigel Williams
   You can also search for this author inPubMed Google Scholar
5. Marian Hamshere
   You can also search for this author inPubMed Google Scholar
6. Gillian Spurlock
   You can also search for this author inPubMed Google Scholar
7. Jehannine Austin
   You can also search for this author inPubMed Google Scholar
8. Mark Stephens
   You can also search for this author inPubMed Google Scholar
9. Paul Buckland
   You can also search for this author inPubMed Google Scholar
10. Michael Owen
    You can also search for this author inPubMed Google Scholar
11. Michael O'Donovan
    You can also search for this author inPubMed Google Scholar

Additional information

Electronic Publication

Rights and permissions

About this article

Cite this article

Hoogendoorn, B., Norton, N., Kirov, G. et al. Cheap, accurate and rapid allele frequency estimation of single nucleotide polymorphisms by primer extension and DHPLC in DNA pools.Hum Genet 107, 488–493 (2000). https://doi.org/10.1007/s004390000397

Download citation

• Received: 26 June 2000
• Accepted: 30 August 2000
• Issue Date: November 2000
• DOI: https://doi.org/10.1007/s004390000397

Keywords