The apolipoprotein E genotyping using the PCR-RFLP was useful to linkage analysis of Alzheimer's disease families
Moon Ju Oh, Eun Kee Chung EK, Young Min Shin, Kyung Ok Lee, Young Suk Park · Experimental & Molecular Medicine · 1997
Apolipoprotein E (ape E) has three common alleles (ape ε 2, ε 3 and ε 4) that code for three major isoforms E2, E3 and E4. The isoforms differ from each other by a single amino acid substitutions at two positions and also differ in their binding affinity for the apo E receptors. Moreover, recently a strong association between the apo ε 4 allele and late-onset Alzheimer disease (AD) was demonstrated. In this study, were analyzed the apo E genotypes using the Hhal digestion of PCR amplified samples, and the apo ε 4 allele frequency from 70 AD patients and 106 normal population in Korea. The results suggested that the frequency of ε 4 allele among the AD patients (35.7%) was 3 times higher than that among the control population (13.7%). The data, which are in agreement with recent reports, suggests that the apo ε 4 allele is associated with AD in Korea.