Patel P, Bell G I, Cook J T, Turner R C, Wainscoat J S
Nuffield Department of Clinical Medicine, Radcliffe Infirmary, Headington, Oxford, UK.
Diabetologia. 1991 Nov;34(11):817-21. doi: 10.1007/BF00408357.
The liver/islet glucose transporter (GLUT2) is expressed in the liver and in the Beta cells of pancreatic islets and is a candidate gene for the inherited defect in Type 2 (non-insulin-dependent) diabetes mellitus. A series of restriction fragment length polymorphisms have been identified using a GLUT2 cDNA probe with five restriction enzymes in a British white Caucasian population. Five independent restriction fragment length polymorphisms detected by restriction enzymes EcoRI (two restriction fragment length polymorphisms termed EcoRI-1, EcoRI-2), TaqI (two restriction fragment length polymorphisms termed TaqI-1, TaqI-2), and BclI (BclI-2) were used to construct GLUT2 haplotypes. Significant linkage disequilibrium was observed between four polymorphic sites EcoRI-2, TaqI-1, TaqI-2 and BclI-2 but linkage disequilibrium was not observed with EcoRI-1 polymorphic site and the other four sites. The frequencies of GLUT2 restriction fragment length polymorphisms and haplotypes in 50 Type 2 diabetic subjects and 50 non-diabetic control subjects show no significant differences suggesting that it is unlikely that there is a single major defect of this gene contributing to the inherited susceptibility to Type 2 diabetes in a Caucasian population.
肝脏/胰岛葡萄糖转运蛋白2（GLUT2）在肝脏和胰岛β细胞中表达，是2型（非胰岛素依赖型）糖尿病遗传缺陷的候选基因。在英国白种人群体中，使用GLUT2 cDNA探针和五种限制酶鉴定出一系列限制性片段长度多态性。通过限制酶EcoRI（两种限制性片段长度多态性，称为EcoRI-1、EcoRI-2）、TaqI（两种限制性片段长度多态性，称为TaqI-1、TaqI-2）和BclI（BclI-2）检测到的五个独立的限制性片段长度多态性用于构建GLUT2单倍型。在四个多态性位点EcoRI-2、TaqI-1、TaqI-2和BclI-2之间观察到显著的连锁不平衡，但在EcoRI-1多态性位点与其他四个位点之间未观察到连锁不平衡。50名2型糖尿病患者和50名非糖尿病对照受试者中GLUT2限制性片段长度多态性和单倍型的频率无显著差异，这表明在白种人群体中，该基因不太可能存在单一的主要缺陷导致2型糖尿病的遗传易感性。
