Polymorphism in the 5'-flanking region of the human insulin gene and its possible relation to type 2 diabetes.
Polymorphism in the 5'-flanking region of the human insulin gene and its possible relation to type 2 diabetes.
复制标题
人胰岛素基因 5 侧翼区域的多态性及其与 2 型糖尿病的可能关系。
DOI：
10.1126/science.6267694
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发表时间：
1981
期刊：
影响因子：
56.9
通讯作者：
MA Permut
中科院分区：
文献类型：
--
作者：
P. Rotwein;R. Chyn;J. Chirgwin;Barbara Cordell;Howard M. Goodman;MA Permut
用克隆的人胰岛素基因组探针，用Southern印迹杂交技术对87例人胰岛素基因进行了分析。在38个个体的DNA中，在该基因的5 '侧翼区发现了1.5至3.4个酶对的插入。这些插入发生在转录起始位点的1.3个内切酶对内。相比之下，在编码序列的3'区域中未观察到插入。2型糖尿病患者中这些插入的患病率显著高于其他组（P <0.001）。这一惊人的长度多态性限制在一个潜在的启动子区域，表明这些插入可能在胰岛素基因表达中发挥作用。
The arrangement of the human insulin gene in DNA from 87 individuals was analyzed by the Southern blot hybridization technique with a cloned genomic human insulin probe. Insertions of 1.5 to 3.4 kilobase pairs in the 5'-flanking region of the gene were found in DNA from 38 individuals. These insertions occurred within 1.3 kilobase pairs of the transcription initiation site. In contrast, no insertions were observed in the region 3' to the coding sequence. The prevalence of these insertions in type 2 diabetes was significantly greater than in the other groups (P less than .001). The limitation of this striking length polymorphism to a potential promoter region suggests that these insertions may play a role in insulin gene expression.