The apolipoprotein E genotyping using the PCR-RFLP was useful to linkage analysis of Alzheimer's disease families.
- Author:
Moon Ju OH
1
;
Eun Kee CHUNG
;
Young Min SHIN
;
Kyung Ok LEE
;
Young Suk PARK
Author Information
1. SEOUL NATL MENTAL HOSP,DEPT GERIATR PSYCHIAT, SEOUL 133223, SOUTH KOREA.
- Publication Type:Original Article
- Keywords:
Alzheimer's disease (AD);
apolipoprotein E genotype;
polymerase chain reaction-restriction fragment length polymorphism
- MeSH:
Alleles;
Alzheimer Disease*;
Amino Acid Substitution;
Apolipoproteins E;
Apolipoproteins*;
Digestion;
Gene Frequency;
Genotype;
Humans;
Korea;
Low Density Lipoprotein Receptor-Related Protein-1;
Polymerase Chain Reaction;
Protein Isoforms
- From:Experimental & Molecular Medicine
1997;29(3):161-164
- CountryRepublic of Korea
- Language:English
-
Abstract:
Apolipoprotein E (ape E) has three common alleles (ape epsilon 2, epsilon 3 and epsilon 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 epsilon 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 epsilon 4 allele frequency from 70 AD patients and 106 normal population in Korea. The results suggested that the frequency of epsilon 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 epsilon 4 allele is associated with AD in Korea.
