Polymorphisms of the apolipoprotein B and E genes and their possible roles in familial and non-familial combined hyperlipidaemia.
The frequency of polymorphisms of the apolipoprotein (apo) B and E gene loci were studied in 59 patients with primary combined hyperlipidaemia, including 26 with familial combined hyperlipidaemia. Variation at the apo B gene locus was examined using restriction enzymes XbaI, EcoRI, and PvuII. At the apo E gene locus, variation causing the E2, E3, and E4 phenotypes was detected using the polymerase chain reaction in conjunction with allele-specific oligonucleotide probes. The frequency of apo B RFLPs in patients were not significantly different from healthy controls, however, the apo E4 allele was over-represented. This suggests that possession of the apo E4 allele may contribute to the development of the combined hyperlipidaemic phenotype and to familial combined hyperlipidaemia.
Houlston
R
R
Arterial Diseases Research Group, Charing Cross Research Centre, London.
Lewis
B
B
Humphries
S E
SE
D000328:Adult; D000368:Aged; D000483:Alleles; D001055:Apolipoproteins B / Q000235:genetics*; D001057:Apolipoproteins E / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D006950:Hyperlipidemia, Familial Combined / Q000097:blood / Q000235:genetics*; D006949:Hyperlipidemias / Q000097:blood / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D012150:Polymorphism, Restriction Fragment Length
D001055:Apolipoproteins B; D001057:Apolipoproteins E; D005819:Genetic Markers