gb HEMO PAI1 (4G/5G)
allelic discrimination, real-time PCR
The kit is intended for detection of mutation 4G/5G in PAI1 gene promotor in human genomic DNA. Detection is based on real-time polymerase chain reaction (qPCR) using fluorescently labelled probes (allelic discrimination).
PAI1 (plasminogen activator inhibitor 1) belongs to a group of serine proteases and is produced by endothelial cells, fibroblasts and hepotycytes. The main function of PAI1 is inhibition of tissue-like and urinokinase-like plasminogen activators. These activators enhance finbrinolysis by activation of plasminogen. Polymorphism 4G/5G results in increased transcriptional activity of the gene PAI1.
The basis of the mutation is insertion or deletion of the nucleotide guanine (G) in the position 675 in the gene promoter region. Allele 4G is associated with an increase in expression of gene PAI1 resulting in lower fibrinolysis. In 4G homozygotes the expression level of PAI1 gene is up to 25 % higher compared to 5G homozygotes. In combination with other thrombophilic mutations (F5 Leiden) 4G allele is considered to be a risk factor for thrombosis development. 4G homozygotes are at 2× higher risk of heart attack development and up to 6× higher risk of septic shock during meningococcal infection.
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 7500/7500 Fast (ABI)
ABI 7900HT (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)