title: LightTyper platform for high-throughput clinical genotyping.
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.
authors.affiliation: The Cleveland Clinic Foundation, Department of Clinical Pathology, OH 44195, USA. murugeg@ccf.org
authors.forename: Gurunathan
authors.initials: G
authors.lastname: Murugesan
authors.forename: Kandice
authors.initials: K
authors.lastname: Kottke-Marchant
authors.forename: Stephen
authors.initials: S
authors.lastname: Ellis
authors.forename: Ramtin
authors.initials: R
authors.lastname: Agah
authors.forename: Raymond
authors.initials: R
authors.lastname: Tubbs
mesh_terms: D000818:Animals; D004247:DNA / Q000032:analysis / Q000235:genetics; D004252:DNA Mutational Analysis / Q000295:instrumentation* / Q000379:methods*; D015342:DNA Probes / Q000235:genetics; D005453:Fluorescence; D005820:Genetic Testing / Q000379:methods*; D005838:Genotype; D006801:Humans; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: D015342:DNA Probes; D004247:DNA