GPIBA1b (T -5C ) SNP-Screen | T01354

GPIBA1b (T -5C ) SNP-Screen | T01354 from Sacace Biotechnologies is available for delivery

Description: RT-PCR test for detection of platelet glycoprotein Ib? gene mutation (Kozak sequence polymorphism; rs2243093) for Coagulation/Fibrinolysis System

Available Formats:

- Ready to Use 0,2 mL Tube

- Ready to Use 12 x 8 Strip

Storage & Shipping :

ON REQUEST

GPIBA1b (T -5C ) SNP-Screen T01354 DataSheet

INTRODUCTION

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.