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Single nucleotide polymorphism (SNP) occurs relatively frequently in the human genome, with an average of one polymorphic site per 1,000 bases, and is the third generation of genetic markers following microsatellites. Some SNPs also affect gene function, which can lead to changes in biological traits and even cause disease.
CD Genomics provides SNaPshot Multiplex System for SNP detection. The system is based on the principle of fluorescently labeled single base extension. Mainly for medium-throughput SNP testing projects. It is widely used in population genetics research (such as the origin, evolution and migration of organisms) and disease-related genes. In addition, it also plays an important role in pharmacogenomics, diagnostics, and biomedical research.
First, the primers are designed according to the known locations. The primers for different sites are designed into different lengths, and then the SNaPshot reaction is performed. In a reaction system containing a sequenced enzyme, four fluorescently labeled ddNTPs, primers of different lengths next to the 5 ′ end of the polymorphic site, and a PCR template, the polymerase extended the primer by one nucleotide and then terminated, adding a ddNTP to its 3 'end. After detection by the ABI sequencer, the type of bases incorporated can be known according to the color of the peaks, thereby determining the genotype of the sample. The SNP site corresponding to the extension product was determined according to the position of the peak shift. This method is mainly used for medium-throughput SNP typing projects, and is usually used for the analysis of 10-30 SNP loci.
ABI PRISM 3700 DNA Analyzer
Peak file (abl. Format), sequence file (seq. Format); formal data analysis report.
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