STRUCTURE OF THE HUMAN GLUCOKINASE GENE AND IDENTIFICATION OF A MISSENSE MUTATION IN A JAPANESE PATIENT WITH EARLY-ONSET NON-INSULIN-DEPENDENT DIABETES-MELLITUS

Glucokinase is thought to play a glucose-sensor role in the pancreas, and abnormalities in its structure, function, and regulation can induce diabetes. We isolated the human glucokinase gene and determined its genomic structure including exon-intron boundaries. Structure of the glucokinase gene in human was very similar to that in at Then, by screening Japanese diabetic patients using polymerase chain reaction - single strand conformation polymorphism (PCR-SSCP) and direct-sequencing strategies, we identified a missense mutation substituting arginine (AGG) for glycine (GGG) at position 261 in exon 7 of the glucokinase gene in a patient with early-onset non-insulin-dependent diabetes (NIDDM).