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.
Arterial Diseases Research Group, Charing Cross Research Centre, London.
R
R
Houlston
B
B
Lewis
S E
SE
Humphries
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