Apolipoprotein B (APOB)

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 glutamine (Gln) in position 3527.

BMG-300

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Polymerase chain reaction (PCR)

EDTA Blood, DNA