Zaiou M, Visvikis S, Gueguen R, Parra H J, Fruchart J C, Siest G
Centre de Médecine Préventive, URA CNRS 597, Vandoeuvre-les-Nancy, France.
Clin Genet. 1994 Sep;46(3):248-54. doi: 10.1111/j.1399-0004.1994.tb04235.x.
Genetic polymorphisms of apolipoprotein (apo) A-IV have been shown to influence lipoprotein metabolism in some human populations. In this study, we have evaluated the physiological effect of three apo A-IV polymorphisms (Gln360- > His, Thr347- > Ser and XbaI within the second intron of the apo A-IV gene), in a French population, on seven quantitative traits: total cholesterol and triglycerides, cholesterol of HDL, apo A-IV, apo B, apo A-I and glucose. The polymorphism at amino-acid 360 was determined by direct analysis of polymerase chain reaction products. The allele frequencies were 0.92 for the A-IV1 and 0.08 for the A-IV2 allele. The genetic polymorphism at codon 347 was investigated by allele-specific oligonucleotide hybridization. The allele frequencies of the two alleles, A-IV347Thr and A-IV347Ser, were 0.78 and 0.22, respectively. The XbaI polymorphism was investigated by polymerase chain reaction followed by XbaI restriction enzyme digestion of the amplified products. The frequencies of the two apo A-IV alleles, XbaI-1 and XbaI-2, were 0.79 and 0.21, respectively. None of the three apo A-IV polymorphisms had a significant effect on lipoprotein, apolipoprotein and glucose levels.
载脂蛋白（apo）A-IV的基因多态性已被证明在一些人群中会影响脂蛋白代谢。在本研究中，我们评估了法国人群中载脂蛋白A-IV的三种多态性（Gln360→His、Thr347→Ser以及apo A-IV基因第二个内含子中的XbaI）对七个数量性状的生理影响，这七个数量性状分别为：总胆固醇、甘油三酯、高密度脂蛋白胆固醇、apo A-IV、apo B、apo A-I和葡萄糖。通过直接分析聚合酶链反应产物来确定氨基酸360处的多态性。A-IV1等位基因频率为0.92，A-IV2等位基因频率为0.08。通过等位基因特异性寡核苷酸杂交研究密码子347处的基因多态性。两个等位基因A-IV347Thr和A-IV347Ser的等位基因频率分别为0.78和0.22。通过聚合酶链反应，随后用XbaI限制性内切酶消化扩增产物来研究XbaI多态性。两个apo A-IV等位基因XbaI-1和XbaI-2的频率分别为0.79和0.21。载脂蛋白A-IV的这三种多态性均未对脂蛋白、载脂蛋白和葡萄糖水平产生显著影响。
