MutaGEL Apolipoprotein B 100 PCR Assay
MutaGEL ApoB100 PCR Assay manufactured in Germany by Immundiagnostik
Size: 24 Samples
Method: PCR (allel specific)
Sample Type: DNA (e.g.whole blood, cheek swab)
Sample Size: 200 µL
For Research Use Only
Storage and Stability:
Store at < -18°C. The reagents are stable in the unopened micro tubes until the expiration date indicated (see print on the package). Before use: Spin tubes briefly before opening (contents may become dispersed during shipment).
The PCR is resulting for all positive controls in DNA fragments of the indicated lengths and for samples at least in the amplification product of the indicated length. If this is not the case, the sample must be tested a second time or the complete analysis must be repeated with freshly isolated DNA. If there are no positive control DNA fragments present, the amplification was incorrect and the chosen PCR conditions have to be examined.
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.