gb HEMO GPIIIa (L33P)
allelic discrimination, real-time PCR
The kit is intended for detection of L33P mutation in GPIIIa (ITGB3) gene in human genomic DNA. Detection is based on real-time polymerase chain reaction (qPCR) using fluorescently labelled probes (allelic discrimination).
Platelet glycoprotein GPIIIa can be found on the surface of blood platelets in form of a complex GPIIb/IIIa. It belongs to the family of adhesive receptors. The interaction of the said complex with fibrinogen plays a key role in thrombocyte adhesion to the surfaces and each other. L33P polymorphism is the most common and clinically most significant polymorphism of the said gene.
One-nucleotide T>C transition leads to a substitution of the amino acid leucine for proline at nucleotide 33. Mutated allele called PLA2 leads to an increase of thrombocyte aggregability. The carriage of the mutated allele is considered to be a mild risk factor of the coronary artery disease and myocardial infarction in younger people and pre-eclampsia in pregnant women. The
level of risk is increased at concurrent occurrence of other polymorphisms (eNOS, PAI-1). The homozygous carriers of the mutated allele show more frequently reduced susceptibility to antiplatelet therapy by clopidogrel or acetylsalicylic acid (aspirin resistance).
Parameters of the diagnostic kit
- ready-to-use assay
- sample concentration 1-100 ng/µl
- positive and negative controls included
- FAM and HEX channels detection
- identical amplification profile as gb HEMO, gb GENETIC, gb PHARM kits
ABI 7300 (ABI)
ABI 7500/7500 Fast (ABI)
AriaMx (Agilent Technologies)
iCycler iQ5 (Bio-Rad)
Light Cycler 480/Cobas z480 (Roche Diagnostics)
RG 3000 (Corbett Research)
RG 6000/Q (Corbett Research/Qiagen)