Authors: Murugesan, Gurunathan; Kottke-Marchant, Kandice; Ellis, Stephen; Agah, Ramtin; Tubbs, Raymond

Source: Expert Review of Molecular Diagnostics, Volume 5, Number 3, May 2005 , pp. 457-471(15)

Publisher: Expert Reviews

Abstract:

DNA sequence variations due to single nucleotide changes or polymorphisms (SNPs) have demonstrated an association with certain diseases as causative agents or surrogate biomarkers. Identification and genotyping of SNPs requires reliable and robust technologies. Multiple genotyping platforms are available to detect SNPs. Although many of these platforms meet the requirements of the research environment, technologies have also emerged for high-throughput clinical genotyping as well. The LightTyper™ is one such platform, providing SNP identification by employing melting curve analysis of fluorescently labeled probes. The LightTyper has been used to identify SNPs associated with myocardial infarction, developing and validating assays for approximately 100 SNPs in 30 candidate genes. The LightTyper is also amenable to the use of assays already developed for the LightCycler™, which is widely used in clinical laboratories. The initial experience presented here suggests the potential use of the LightTyper for high-throughput clinical genotyping.

Keywords: AcycloPrime-FP; diagnostic; DNA; FRET; genotyping; high throughput; Invader™ assay; LightCycler™; LightTyper™; molecular beacons; NanoChip®; PCR; Pyrosequencing®; Scorpion primers; SNP; TaqMan® probes

Document Type: Research article

DOI: http://dx.doi.org/10.1586/14737159.5.3.457

Publication date: 2005-05-01

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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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