title: Disparity between apolipoprotein E phenotypes and genotypes (as determined by polymerase chain reaction and oligonucleotide probes) in patients with non-insulin-dependent diabetes mellitus.
abstract: Apolipoprotein (apo) E phenotype and genotype frequencies, due to allelic variation at amino acids 112 and 158, have been investigated in 95 Caucasian non-insulin dependent diabetic patients (NIDDM). Phenotypes were determined by one-dimensional isoelectric focussing (IEF). In this sample, the frequency of the epsilon 2 allele was higher (0.122) and the frequency of the epsilon 4 allele lower (0.101) than previously reported in Caucasian populations (P less than 0.05). Genotypes were assigned using the technique of polymerase chain reaction and allele specific oligonucleotide probes. By contrast, the frequencies of the alleles determined by genotyping was similar to previously reported in Caucasian populations (apo epsilon 2, 0.095; epsilon 3, 0.758; epsilon 4, 0.147; P greater than 0.1). It is possible that in patients with NIDDM post-translational modification of apo E may lead to disparities, with phenotypes being unrepresentative of allelic variation at this gene locus.
authors.affiliation: Department of Medicine, University of Newcastle upon Tyne, Medical School, UK.
authors.forename: C
authors.initials: C
authors.lastname: Snowden
authors.forename: R S
authors.initials: RS
authors.lastname: Houlston
authors.forename: M H
authors.initials: MH
authors.lastname: Arif
authors.forename: M F
authors.initials: MF
authors.lastname: Laker
authors.forename: S E
authors.initials: SE
authors.lastname: Humphries
authors.forename: K G
authors.initials: KG
authors.lastname: Alberti
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D001057:Apolipoproteins E / Q000235:genetics* / Q000378:metabolism; D001483:Base Sequence; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics; D005838:Genotype; D006801:Humans; D007525:Isoelectric Focusing; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D015345:Oligonucleotide Probes; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011499:Protein Processing, Post-Translational; D044465:White People
chemical_list: D001057:Apolipoproteins E; D015345:Oligonucleotide Probes