Abstract
We estimated the frequencies of phenotype (isoelectric focusing; IEF) vs. genotype (PCR/HhaI) discordance in a sample of an aged population (> 65 years). Both phenotype and genotype techniques have been used in the study of apolipoprotein E (apoE) polymorphism in 125 elderly subjects.
The discordance between phenotype and genotype was unresolved in 11 (8.8%) of the 125 unrelated subjects studied. We observed a significant association between the presence of the E4 allele and both Alzheimer's disease (χ2=13 p<0.001) and increased cholesterol concentration (Mann Whitney, p<0.03). These relationships were not affected by the techniques used.
Our results indicate that transcriptional modulation and post-transductional modifications in normal ageing and in aged-related diseases may explain in part discrepancies between gene analysis and protein characterisation.
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