1989 Volume 105 Issue 4 Pages 491-493
Two types of apoE alleles from a genomic DNA library of a subject with the apoE2/E5 phenotype have been cloned. One of these alleles encodes an apoE isoprotein having cysteine, arginine, and cysteine at positions 112, 145, and 158 of mature apoE isoproteins, respectively, indicating an ε apoE2 allele. The other allele encodes a different isoprotein, having cysteine, arginine, and arginine at each of the above positions, respectively. In addition, this allele has a base substitution (G→A) which causes the substitution of lysine for glutamic acid at position 3 near the NH2-terminus of the mature apoE. This allele is a new variant, the ε apoE5 allele.
