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Single nucleotide polymorphism genotyping: biochemistry, protocol, cost and throughput

The Pharmacogenomics Journal volume 3, pages 77–96 (2003)Cite this article

ABSTRACT

The large number of single nucleotide polymorphism (SNP) markers available in the public databases makes studies of association and fine mapping of disease loci very practical. To provide information for researchers who do not follow SNP genotyping technologies but need to use them for their research, we review here recent developments in the fields. We start with a general description of SNP typing protocols and follow this with a summary of current methods for each step of the protocol and point out the unique features and weaknesses of these techniques as well as comparing the cost and throughput structures of the technologies. Finally, we describe some popular techniques and the applications that are suitable for these techniques.

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Abbreviations

SNP:

single nucleotide polymorphism

SBE:

single base extension

ASE:

allele-specific extension

AS-PCR:

allele-specific PCR

FRET:

fluorescence resonance energy transfer

FP:

fluorescence polarization

MALDI:

matrix-assisted laser desorption/ionization

MS:

mass spectrometry

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Authors and Affiliations

  1. Department of Psychiatry, Virginia Institute for Psychiatric and Behavioral Genetics, Virginia Commonwealth University, Richmond, VA, USA

    X Chen & P F Sullivan

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  1. X Chen
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  2. P F Sullivan
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Correspondence to X Chen.

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Duality of Interest

XC is one of the inventors of the FP-TDI technique and has a small interest from sales of the technique by Perkin-Elmer Corporation.

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Chen, X., Sullivan, P. Single nucleotide polymorphism genotyping: biochemistry, protocol, cost and throughput. Pharmacogenomics J 3, 77–96 (2003). https://doi.org/10.1038/sj.tpj.6500167

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  • DOI: https://doi.org/10.1038/sj.tpj.6500167

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