DISPARITY BETWEEN APOLIPOPROTEIN E PHENOTYPES AND GENOTYPES (AS DETERMINED BY POLYMERASE CHAIN-REACTION AND OLIGONUCLEOTIDE PROBES) IN PATIENTS WITH NON-INSULIN-DEPENDENT DIABETES-MELLITUS

作者：SNOWDEN C; HOULSTON RS; ARIF MH; LAKER MF; HUMPHRIES SE; ALBERTI KGMM

来源：Clinica Chimica Acta, 1991, 196(1): 49-57.

DOI：10.1016/0009-8981(91)90207-S

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 E2 allele was higher (0.122) and the frequency of the E4 allele lower (0.101) than previously reported in Caucasian populations (P < 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 E2, 0.095; E3, 0.758; E4, 0.147; P > 0.1). It is possible that in patients with NADDM post-translational modification of apo E may lead to disparities, with phenotypes being unrepresentative of allelic variation at this gene locus.

• 出版日期1991-1-31