Exp Mol Med.  1997 Sep;29(3):161-164.

The apolipoprotein E genotyping using the PCR-RFLP was useful to linkage analysis of Alzheimer's disease families

Affiliations
  • 1SEOUL NATL MENTAL HOSP,DEPT GERIATR PSYCHIAT, SEOUL 133223, SOUTH KOREA.
  • 2GANG NAM HOSP, DEPT PSYCHIAT, SEOUL 135090, SOUTH KOREA.
  • 3SEOUL MED SCI INST, SEOUL CLIN LABS, DEPT GENET ANAL, SEOUL 140230, SOUTH KOREA.

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.

Keyword

Alzheimer's disease (AD); apolipoprotein E genotype; polymerase chain reaction-restriction fragment length polymorphism

MeSH Terms

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
Apolipoproteins
Apolipoproteins E
Low Density Lipoprotein Receptor-Related Protein-1
Protein Isoforms
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