Single nucleotide polymorphisms (SNPs) are the most common type of genetic variation between individuals of a species and are therefore thought to be responsible for a large part of individual phenotypic variation. It has been estimated that a SNP may occur every 100-300 bases in the human genome. Research on human SNPs is expected to facilitate genetic mapping studies that may lead to a better understanding of the genetic basis for complex diseases and individual variation in drug metabolism. We have developed a novel assay for the identification of known SNPs using primer extension with the novel AcycloTerminators and a new thermostable polymerase, AcycloPol, in a homogeneous fluorescence polarization (FP) format. All assay steps can be performed in the same well of either a 384- or 96-well PCR-compatible microplate. FP provides several advantages, including simplicity and low reagent cost. The homogeneous assay format eliminates any need for separation or washing steps and is amenable to automation.
Bio-Rad Laboratories supplies imaging equipment for many applications in the life sciences. As part of our effort to offer more flexibility to the investigator, we are developing a microscope-based imaging spectrometer for the automated detection and analysis of either conventionally or fluorescently labeled samples. Immediate applications will include the use of fluorescence in situ hybridization (FISH) technology. The field of cytogenetics has benefited greatly from the increased sensitivity of FISH producing simplified analysis of complex chromosomal rearrangements. FISH methods for identification lends itself to automation more easily than the current cytogenetics industry standard of G- banding, however, the methods are complementary. Several technologies have been demonstrated successfully for analyzing the signals from labeled samples, including filter exchanging and interferometry. The detection system lends itself to other fluorescent applications including the display of labeled tissue sections, DNA chips, capillary electrophoresis or any other system using color as an event marker. Enhanced displays of conventionally stained specimens will also be possible.
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