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Journal of Clinical Endocrinology & Metabolism, Vol 75, 1571-1573, Copyright © 1992 by Endocrine Society

ARTICLES

Structure of the human glucokinase gene and identification of a missense mutation in a Japanese patient with early-onset non-insulin- dependent diabetes mellitus

H Sakura, K Eto, H Kadowaki, K Simokawa, H Ueno, N Koda, Y Fukushima, Y Akanuma, Y Yazaki and T Kadowaki
Third Department of Internal Medicine, Faculty of Medicine, University of Tokyo, Japan.

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 rat. 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).


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