Xu C F, Nanjee N, Tikkanen M J, Huttunen J K, Pietinen P, Bütler R, Angelico F, Del Ben M, Mazzarella B, Antonio R
Charing Cross Sunley Research Centre, London, UK.
Hum Genet. 1989 Jul;82(4):322-6. doi: 10.1007/BF00273990.
A G- to A-DNA sequence change in exon 26 of the human apolipoprotein B (apo B) gene leads to a glutamine substitution for arginine at codon 3611 of the mature apolipo-protein B100 and causes a loss of an MspI site. In 106 Finnish individuals, a complete correspondence exists between this MspI polymorphic site and the Ag (h/i) immunochemical polymorphism. Linkage disequilibrium was found between this MspI polymorphic site and the apo B XbaI and EcoRI variable sites and the Ag (al/d) and (c/g) epitope pairs; there is apparent linkage equilibrium with the apo B PvuII variable site. Based on three population studies (samples from London. Finland and Italy), no significant association was found between this RFLP and serum cholesterol and apo B levels. These data suggest that the arginine 3611----glutamine 3611 substitution has no significant effect on apo B function.
人类载脂蛋白B（apo B）基因第26外显子中从G到A的DNA序列变化，导致成熟载脂蛋白B100的第3611密码子处精氨酸被谷氨酰胺取代，并导致一个MspI位点的丢失。在106名芬兰个体中，这个MspI多态性位点与Ag（h/i）免疫化学多态性完全对应。在这个MspI多态性位点与apo B XbaI和EcoRI可变位点以及Ag（al/d）和（c/g）表位对之间发现了连锁不平衡；与apo B PvuII可变位点存在明显的连锁平衡。基于三项人群研究（来自伦敦、芬兰和意大利的样本），未发现这种限制性片段长度多态性（RFLP）与血清胆固醇和apo B水平之间存在显著关联。这些数据表明，精氨酸3611→谷氨酰胺3611的取代对apo B功能没有显著影响。
