gb GENETIC APOE
This in vitro diagnostic kit is intended for detection of mutations rs429358 and rs7412 in the gene for APOE in human genomic DNA. It enables determination of e2 (cys112, cys158), e3 (cys112, arg158) and e4 (arg112, arg158) genotypes. Examination process is based on a principle of real-time PCR with the use of fluorescently labelled probes (allelic discrimination).
Clinical implications of the CE IVD kit
Apolipoprotein E is an important structural component of particles transporting cholesterol (VLDL, HDL) and is a ligand of cell receptors found mainly in the brain and the liver. The apolipoprotein E gene occurs in three forms of alleles, e2, e3 and e4, which code for protein isoforms E2, E3 and E4 respectively. These isoforms characteristically have amino-acids
at positions 112 and 158.
Isoform E3, coded by the e3 allele, is predominantly present in the population (wild-type), and carries cysteine and arginine amino-acids at positions 112 and 158 respectively. There are three homozygous (e2/e2, e3/e3 and e4/e4) and three heterozygous (e2/e3, e3/e4, e2/e4) genotypes present in the population. The e2 allele is associated with the occurrence of type III hyperlipoproteinemia. Isoform E2, coded by this allele, has significantly lower affinition to lipoprotein receptors, compared to isoforms E3 and E4. Individuals carrying this isoform suffer from higher level of triacylglycerols in their plasma. The E4 allele increases LDL cholesterol level and thus is a risk factor of atherosclerosis. In its homozygous form this allele is also connected with the development of the idiopathic form of Alzheimer’s disease. E2 allele is related to a lower risk of occurrence of this disease.
Parameters of the real-time PCR diagnostic kit
- ready-to-use assay
- sample concentration 5-100 ng/µl
- positive and negative controls included
- FAM and HEX channels detection
ABI 7500/7500 Fast (ABI)
Light Cycler 480/Cobas z480 (Roche Diagnostics)
QuantStudio 5 (Applied Biosystems)
RG 3000 (Corbett Research)
RG 6000/Q (Corbett Research/Qiagen)