Hinata S, Nishi S, Matsukage T, Yoshimi T
Department of Internal Medicine, Hamaoka Municipal Hospital.
Nihon Rinsho. 1994 Oct;52(10):2702-7.
Glucokinase has been proposed to play an important role as a glucose sensor in pancreatic beta-cells. Mutations in the glucokinase gene have been shown to be the major cause of maturity-onset diabetes of the young (MODY) in Caucasian subjects. In population-association study with microsatellite DNA polymorphisms in Japanese subjects with NIDDM, a negative association was evident between NIDDM and the glucokinase gene locus, although contradictionary results were present. Using PCR-SSCP analysis, no glucokinase mutation, which induces changes in amino acid residues, was identified in Japanese subjects with classical late-onset NIDDM. These results suggest that mutations in this gene are not the major cause of common form NIDDM in Japanese.
已有人提出，葡萄糖激酶在胰腺β细胞中作为葡萄糖传感器发挥重要作用。葡萄糖激酶基因突变已被证明是白种人青少年发病型糖尿病（MODY）的主要病因。在对日本非胰岛素依赖型糖尿病（NIDDM）患者进行的微卫星DNA多态性群体关联研究中，尽管存在矛盾的结果，但NIDDM与葡萄糖激酶基因位点之间存在明显的负相关。使用聚合酶链反应-单链构象多态性（PCR-SSCP）分析，在患有典型晚发型NIDDM的日本患者中未发现诱导氨基酸残基变化的葡萄糖激酶突变。这些结果表明，该基因的突变不是日本常见类型NIDDM的主要病因。
