Authors: Bakht, Saleha; Qi, Xiaoquan

Source: Expert Review of Molecular Diagnostics, Volume 5, Number 1, January 2005 , pp. 111-116(6)

Publisher: Expert Reviews

Abstract:

Ligation-mediated single nucleotide polymorphism detection coupled with an efficient method of signal enhancement, such as rolling-circle amplification, hyperbranched rolling-circle amplification or PCR, has provided the foundation for the development of variable single nucleotide polymorphism genotyping and analyzing methods for different applications. Several methods based on the above approaches have been developed, enabling rapid genotyping of a large number of single nucleotide polymorphisms directly from a small amount of genomic DNA and large-scale multiplex single nucleotide polymorphism (>1000 single nucleotide polymorphisms per assay) analysis on microarrays. This review categorizes different approaches and describes the principles of each approach for single nucleotide polymorphism detection. Possible future research directions including the development of optimized methods for analysis of cytologic samples and other applications are also discussed.

Keywords: DNA diagnostics; molecular marker; padlock probe; rolling-circle amplification; single nucleotide polymorphisms; SNP genotyping

Document Type: Research article

DOI: http://dx.doi.org/10.1586/14737159.5.1.111

Affiliations: 1: John Innes Centre, Sainsbury Laboratory, Norwich Research Park, Colney, Norwich NR4 7UH, UK., Email: saleha.bakht@sainsbury-laboratory.ac.uk

Publication date: 2005-01-01

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• Expert Review of Molecular Diagnostics provides expert reviews on molecular diagnostic technologies and applied pharmacogenomics in clinical medicine. Coverage includes molecular diagnostics, biomarkers, diagnostic technologies, microarrays and biochips, proteomics, pharmacogenomics, pharmacogenetics and personalized medicine.
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