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 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).
Sakura
H
H
Third Department of Internal Medicine, Faculty of Medicine, University of Tokyo, Japan.
Eto
K
K
Kadowaki
H
H
Simokawa
K
K
Ueno
H
H
Koda
N
N
Fukushima
Y
Y
Akanuma
Y
Y
Yazaki
Y
Y
Kadowaki
T
T
D001483:Base Sequence; D002648:Child; D004247:DNA / Q000235:genetics; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005260:Female; D005796:Genes; D005941:Glucokinase / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
D004247:DNA; D005941:Glucokinase