文章基本信息

标题：Investigation into the role of apolipoprotein B gene 8344C/T variant on plasma cholesterol levels by allele-specific PCR amplification
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作者：Alfredo CANTAFORA (a) ; Stefano BERTOLINI (b) ; Ida BLOTTA (a) 等
期刊名称：Annali dell'Istituto Superiore di Sanita
印刷版ISSN：0021-2571
出版年度：2002
卷号：38
期号：04
出版社：Editrice Kurtis Srl
摘要：Summary. - The 8344C/T polymorphism of the apoB gene was genotyped by an original modification of PCR allele-specific amplification consisting in a single amplification reaction double-primed by two opposite allele-specific oligonucleotides nested in a larger amplified fragment. This method was used to genotype 200 randomly selected healthy individuals (113 males, 87 females). The frequency of the rare allele in this random Italian population was 0.240, i.e. not far from the 0.282 frequency observed in hypocholesterolemic Norwegians and suggestive of a moderating effect on LDL levels of our population. However, we did not find any significant cholesterol-lowering effect of this polymorphism either by comparing the frequency of mutant alleles in the population stratified for its plasma lipoprotein levels or by studying the association between ApoB genotype and the different lipoproteins. In conclusion this ApoB polymorphism appeared to have a secondary role in LDL- and HDL-cholesterol variations of our population.
关键词：Key words: allele-specific primers, apolipoprotein B gene, familial hypercholesterolemia, hypobetalipoproteinemia, hypocholesterolemia, PCR allele-specific amplification