About SNPs

Single nucleotide polymorphisms (SNPs) are one of the most common types of genetic variations in the human genome. SNP mutations can occur in the DNA sequence, encoding protein structure and regulating the level of protein in the system. Consequently, mutations can determine the functionality of proteins and enzymes, e.g., enzyme activity, their affinity for the product, and reaction rate. In some cases also may result in complete loss of protein activity, as well as alter the concentration of the protein in the body. SNPs can result in the appearance of a version of a protein whose functionality has negative outcomes for health. SNPs in genes that regulate DNA mismatch repair, cell cycle, metabolism and immunity are associated with genetic susceptibility to many diseases or even cancers. From a clinical perspective, SNPs are potential diagnostic and therapeutic biomarkers in many cancer types.

Detection Method

Our SNP Detection kits amplify and detect specific polymorphisms in purified genomic DNA samples. Each SNP genotype test allows genotyping of individuals for a single nucleotide polymorphism (SNP). The SNP assay includes forward and reverse primers to amplify surrounding sequence of detected SNP. It also contains two hydrolysis probes. One FAM dye-labeled probe to detect Allele 1 sequence and one VIC/HEX dye-labeled probe to detect Allele 2 sequence.

During the PCR reaction, the DNA polymerase cleaves the specific probe at the 5’ end and separates the reporter dye from the quencher dye only when the probe hybridizes to the target DNA. This cleavage results in the fluorescent signal generated by the cleaved reporter dye, which is monitored real-time by PCR detection system. Detecting genotype in specific polymorphism is based on detecting signal from one or two dyes (FAM or VIC/HEX), which represent specific Allele type.