gb GENETIC APOB (R3500Q)

• kit requires manual preparation of reagents and samples, which are then analysed with the use of real-time PCR cycler instrument
• kit is intended for testing in Caucasian population
• is intended for laboratory professional use by trained healthcare professionals
• detection of R3500Q polymorphism serves as an aid to diagnosis of patients with suspected pathological state in the transport of lipids and cholesterol (Familial hypercholesterolemia)

Clinical implications

Apolipoprotein B100 (APOB100) is one of the B forms of apolipoprotein and it forms the basic protein component of lipoproteins with low and very low density (LDL, VLDL). Thus it plays a significant role during lipid and cholesterol transport. It is synthesized in the liver and distributed by the blood stream to the cells on whose surface it works as a ligand for LDL receptors mediating cholesterol transport to the cells. The most common APOB gene mutation is an R3500Q mutation, which leads to the exchange of amino acid arginine (Arg) for glutamin (Gln) in position 3527. In such a way it causes a change in the protein structure in the place of the receptor binding. Consequently, there is a lower affinity of LDL particles towards the receptors and their accumulation in blood. This genetic disorder is called a familial defective Apolipoprotein B100 and it is one of the causes of familial hypercholesterolemia. Cholesterol accumulation in blood increases the risk of atherosclerosis and heart attack. Although the frequency of the mutant allele is only 0.1% of the healthy population, the frequency is up to 10% in individuals with familial hypercholesterolemia.