ApoB100 PCR Assay

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Polymerase Chain Reaction (PCR)
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Purpose MutaGEL® ApoB100 (Codon 3500) is a RFLP-coupled PCR test kit for the inspection of codon 3500 of the human apolipoprotein-B gene, with the purpose to detect DNA base G (normal) or A (mutant), causative for tanslated arginine or glutamine at this position in the ApoB100 protein.
Brand MutaGEL®
Sample Type DNA
Characteristics Familial Hypercholesterolemia (FH) is a frequent cause of coronary artery disease in human beings. The normal removal of cholesterine from blood is interrupted, when DNA mutations of its liver receptor r-LDL make it defective or, as was found later, if the cholesterine carrier ApoB100 has gene mutations at or around codon 3500. Cd. 3500 Arg-Glu (G-A) is a mutation of Central European abundance and on average 1 of 250 persons is heterozygous for the dominant trait. The pathogenicity of the defective protein varies with further social and unknown genetic mutations: At age 50 20% of female mutation carriers have severe coronary artery disease and 40% of males. FH is easier screened for mutations of ApoB100 than for mutations of the LDL receptor gene.

24-sample kit's PCR mix a piece of DNA sequence around codon 3500 can be amplified and lateron incubated at elevated temperature with a bacterial restriction enzyme, which can recognize and cut the amplimere, when an A-mutation is present and not in the case of a normal G. The effect of the restriction experiment can be controlled by comparing the length of uncut and cut fragments to DNA of known size with a fluorescently coloured electrophoresis gel and UV light.

Sample Volume 200 μL
Restrictions For Research Use only
Storage -20 °C