J Clin Endocrinol Metab. 1992 Dec;75(6):1571-3.

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

Sakura H, Eto K, Kadowaki H, Simokawa K, Ueno H, Koda N, Fukushima Y, Akanuma Y, Yazaki Y, Kadowaki T.

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Third Department of Internal Medicine, Faculty of Medicine, University of Tokyo, Japan.

Abstract

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).

Comment in

J Clin Endocrinol Metab. 1992 Dec;75(6):1401-3.

PMID:: 1464666; [PubMed - indexed for MEDLINE]

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Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus. [Proc Natl Acad Sci U S A. 1992]
Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus.
Stoffel M, Froguel P, Takeda J, Zouali H, Vionnet N, Nishi S, Weber IT, Harrison RW, Pilkis SJ, Lesage S. Proc Natl Acad Sci U S A. 1992 Aug 15; 89(16):7698-702.
Sequence variations of the glucokinase gene in Japanese subjects with NIDDM. [Diabetes. 1993]
Sequence variations of the glucokinase gene in Japanese subjects with NIDDM.
Eto K, Sakura H, Shimokawa K, Kadowaki H, Hagura R, Akanuma Y, Yazaki Y, Kadowaki T. Diabetes. 1993 Aug; 42(8):1133-7.
Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus. [Nature. 1992]
Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus.
Vionnet N, Stoffel M, Takeda J, Yasuda K, Bell GI, Zouali H, Lesage S, Velho G, Iris F, Passa P. Nature. 1992 Apr 23; 356(6371):721-2.
Review [Mutations of glucokinase gene in Japanese subjects with NIDDM]. [Nihon Rinsho. 1994]
Review [Mutations of glucokinase gene in Japanese subjects with NIDDM].
Hinata S, Nishi S, Matsukage T, Yoshimi T. Nihon Rinsho. 1994 Oct; 52(10):2702-7.
Review NIDDM--genetic marker; glucose transporter, glucokinase, and mitochondria gene. [Diabetes Res Clin Pract. 1994]
Review NIDDM--genetic marker; glucose transporter, glucokinase, and mitochondria gene.
Oka Y. Diabetes Res Clin Pract. 1994 Oct; 24 Suppl:S117-21.

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