Safronov V V, Berlova A L, Metel'skaia V A
Mol Biol (Mosk). 1994 Jan-Feb;28(1):216-23.
The study of polymorphisms of human apolipoprotein AI/CIII/IV gene cluster in the Moscow population was carried out using of methods of polymerase chain reaction and restriction. Polymorphisms of apolipoprotein AI/CIII/AIV gene cluster detected with SacI, PstI, PvuII, MspI have been investigated to search for their possible relation to the following quantitative lipid parameters: total cholesterol, HDL cholesterol, triglycerides, apolipoproteins AI, apolipoproteins B. It has been determined that in groups of individuals with increased cholesterol level the frequencies of uncommon alleles at the MspI, SacI, PvuII sites were significantly higher than in controls. Our results show that in groups with increased triglyceride level the frequency of uncommon alleles at the MspI and SacI sites was higher than in controls. Individuals with elevated apolipoprotein B and ratio of apolipoproteins B/AI > 1 have significantly higher frequency of uncommon alleles at the SacI and PvuII sites and uncommon alleles at the PvuII site, respectively. There was no statistically significant correlation between polymorphism at PstI site and lipid level variation. It has been established, by constructing DNA haplotypes, that the presence of particular haplotypes containing an uncommon allele at the PvuII and SacI sites, PvuII and MspI sites, MspI and SacI sites, PvuII and PstI sites, SacI and PstI sites is associated with lipid disorders, and may be associated with development of atherosclerosis.
