Stoffel M, Patel P, Lo Y M, Hattersley A T, Lucassen A M, Page R, Bell J I, Bell G I, Turner R C, Wainscoat J S
Howard Hughes Medical Institute, University of Chicago, Illinois 60637.
Nat Genet. 1992 Oct;2(2):153-6. doi: 10.1038/ng1092-153.
We describe a codon 299 mutation in the glucokinase gene in a British pedigree with maturity-onset diabetes of the young (MODY) resulting in a substitution of glycine to arginine. One out of fifty patients diagnosed with classical late-onset type 2 diabetes mellitus was also found to have this mutation. All nine relatives of this patient who have inherited the mutation have type 2 diabetes, although six others without the mutation are also present with diabetes. The discovery that glucokinase mutations can cause MODY and was also found in ten affected members of a pedigree with type 2 diabetes in which MODY had not previously been considered indicates that diagnosis based on molecular pathology will be helpful in understanding the aetiology of type 2 diabetes.
我们描述了一个英国家系中葡萄糖激酶基因的299密码子突变，该家系中有年轻的成年发病型糖尿病（MODY）患者，此突变导致甘氨酸被精氨酸取代。在五十名被诊断为典型晚发型2型糖尿病的患者中，有一名也被发现存在这种突变。该患者的九名携带此突变的亲属均患有2型糖尿病，不过另外六名未携带该突变的亲属也患有糖尿病。葡萄糖激酶突变可导致MODY，并且在一个之前未被认为存在MODY的2型糖尿病家系的十名患病成员中也被发现，这一发现表明基于分子病理学的诊断将有助于理解2型糖尿病的病因。
