attomol^® Apo E Quicktype

Mutation assay for the detection of the human apo E genotypes.

Apolipoprotein E (apo E) plays a central role in the process of cellular uptake of cholesterol and triglycerides, since this protein is a constituent of all plasma lipoproteins and binds to the widely distributed apoE/B receptor (low density lipoprotein receptor) as well as to the different liver apo E receptors. Apo E occurs in three different isoforms (apo E2, apo E3, apo E4) that enables six different genotypes. The different isoforms are caused by amino acid substitutions in position 112 and 158 of the protein backbone, respectively, based on single nucleotide substitutions within the corresponding codon (Hänisch und Jaross, 1988, Z. Klin. Med. 43: 1165-1168). The wild type isoform apo E3 is the most frequent that has a cysteine in position 112 and an arginine in position 158. In the case of apo E4, the cysteine is substituted by arginine in position 112. By the substitution of arginine 158 by cysteine 158 apo E2 is formed. The molecular differences of apo E influences the structural and physiological properties of the different isoforms that are associated with different types of hyperlipidaemies resulting in arteriosclerosis as the gravest clinical consequence. apo E genotyping in the course of diagnosis of cardiovascular diseases has the most important clinical significance (Siest et al., 1995, Clin. Chem. 41/8: 1068-1086). 90 % of the patients suffering from familiar dysbetalipoproteinaemie (type III hyperlipoproteinaemie) are homozygous carriers of the apo E2-allele. The molecular basis for this defect is the deficient binding of apo E2 to its receptor, thereby the chylomikrons and VLDL catabolism is hardly impaired. However, only 1-4 % of the homozygous carriers of apo E2 show clinical symptoms that indicates other factors responsible for the manifestation of the disease as e.g. smoking, diabetes, overweight (Walden und Hegele, 1994, Ann Intern Med 120: 1026-1036). It was found that apo E4 is associated with enhanced serum cholesterol that is known to be a risk factor for arteriosclerosis, too. Furthermore, an association between apo E4 and the late form of the Alzheimers disease is discussed (Mahley und Rall, 2000, Annu. Rev. Genomics Hum. Genet. 1: 507-537; Weisgraber et al., 1994, Curr Opin Lipidol 5: 110-116).

• PCR-H₂O
• PCR-buffer II
• primer codon 112
• primer codon 158
• instructions for use

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