A single nucleotide polymorphism (SNP pronounced "snip") is a DNA polymorphisms at the level of a single nucleotide, a single base mutation in DNA. SNPs are ‘conserved’ across the genome and represent the most simple form and most common source of genetic polymorphism in the human genome: 90% of all human DNA polymorphisms are associated with SNPs and variation frequency is about 1 every 1000bp in the human genome.
The SNPs in the genome can affect gene functions, protein structure or expression and for these reasons they are used as markers in genetic disease studies. It’s sometimes possible to correlate a SNP with a particular trait or disease: susceptibility to disease may also be described as an ‘unfortunate trait’ that can be assessed checking if the mutated (unfortunate) polymorphism is carried in both alleles.
SNPs testing can be applied to:
Diagnostics / risk profiling
Drug response prediction
Gene function identification
Several SNPs have been associated to genetic susceptibility to different diseases and disorders like for example:
Hypertension
Fibrinolysis
Myocardial infarction
Ischemic stroke
Cancer
Metabolic disorders
In order to perform SNP genotyping, two specific probes labeled with different dyes are used, the first for the wild type allele and the second for the mutant allele. If the assay results in the emission of only the first fluorescent color, then the individual is homozygous wild type at that locus. If the assay results in the emission of only the second fluorescent color, then the individual is homozygous mutant. And finally, if both fluorescent colors are produced, then the individual is heterozygous.
INTENDED USE
Sacace Molecular Genetics Kits are intended for detection and allelic discrimination of genetic polymorphisms associated with inherited susceptibility to increased risk of disease, or to different response to drugs.
PRINCIPLE OF ASSAY
Sacace Molecular Genetics Kits are qualitative tests that allow the detection by Real Time PCR based on the amplification of the genome specific region using specific primers. In Real Time PCR the amplified product is detected using fluorescent dyes. These dyes are linked to oligonucleotide probes that bind specifically to the amplified product. The real-time monitoring of the fluorescence intensities during the reaction allows the detection of accumulating product without re-opening of the reaction tubes after the PCR run.
ADRB2 (C5318G) SNP-Screen | T01358 is available for delivery. RT-PCR test for detection adrenoceptor beta 2, surface gene (Gln27Glu, rs1042714) Available Formats: - Ready to Use 0,2 mL Tube - Ready...
FXIII (G103T) SNP-Screen | T01355 is available for delivery Description: RT-PCR test for detection of factor XIII A1 gene mutation (Val35Leu; rs5985) for Coagulation/Fibrinolysis System Available...
ADRB3 (T190C) SNP-Screen | T01360 is available for delivery. RT-PCR test for detection of SLCO1B1 gene mutation (Val174Ala; rs4149056) Available Formats: - Ready to Use 0,2 mL Tube - Ready to Use...
ITGB3 (T176C) SNP-Screen | T01106 is available for delivery Description: RT-PCR test for detection of Integrin beta-3 gene mutation (Leu33Pro; rs5918) for Coagulation/Fibrinolysis System Available...
PPARG2 (C34G) SNP-Screen | T01359 is available for delivery. Real Time PCR test for detection of Peroxisome Proliferator-Activated Receptor-Gamma-2 gene mutation (Pro12Ala, rs1801282) Available...
FVII (G1238A) SNP-Screen | T01105 is available for delivery Description: RT-PCR test for detection of FVII gene mutation (Arg353Gln; rs6046) for Coagulation/Fibrinolysis System Available Formats: ...
NOS3 (C786T) SNP-Screen | T01182 is available for delivery Description: RT-PCR test for detection of Nitric oxide synthase 3 mutation (rs2070744) for Hypertension Available Formats: - Ready to Use...
LPL (Ser447Ter) SNP-Screen | T01149 is available for delivery Description: RT PCR test for detection of lipoprotein lipase gene mutation (1421C>G, rs328) for Lipid Metabolism Available Formats: ...
APOE Leu48Pro SNP-Screen | T01148 is available for delivery Description: RT-PCR test for detection of apolipoprotein E mutation (T3100C, rs769452) for Myocardial infarction, ischemic stroke ...
