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

Journal Article · Mon Nov 30 23:00:00 EST 1992 · Journal of Clinical Endocrinology and Metabolism; (United States)

DOI:https://doi.org/10.1210/jcem.75.6.1464666· OSTI ID:6558167

Sakura, Hiroshi; Eto, Kazuhiro; Ueno, Hirohisa; Yazaki, Yoshio; Kadowaki, Takashi ^[1]; Kadowaki, Hiroko; Simokawa, Kotaro; Akanuma, Yasuo ^[2]; Koda, Naoya; Fukushima, Yoshimitsu ^[3]

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1. Univ. of Tokyo (Japan)
2. Asahi Life Foundation, Tokyo (Japan)
3. Saitama Children's Medical Center (Japan)

Glucokinase is thought to play a glucose-sensor role in the pancreas, and abnormalities in its structure, function, and regulation can induce diabetes. The authors 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, they identified a missense mutation substituting ariginine (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). 12 refs., 3 figs., 2 tabs.

• OSTI ID: 6558167
• Journal Information: Journal of Clinical Endocrinology and Metabolism; (United States), Journal Name: Journal of Clinical Endocrinology and Metabolism; (United States) Vol. 75:6; ISSN JCEMAZ; ISSN 0021-972X
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
ALDEHYDES
AMINO ACIDS
AMPLIFICATION
ARGININE
CARBOHYDRATES
CARBOXYLIC ACIDS
DIABETES MELLITUS
DISEASES
DNA
DNA SEQUENCING
ENDOCRINE DISEASES
ENZYMES
GENE MUTATIONS
GLUCOSE
GLYCINE
HEXOSES
METABOLIC DISEASES
MONOSACCHARIDES
MUTATIONS
NUCLEIC ACIDS
ORGANIC ACIDS
ORGANIC COMPOUNDS
PHOSPHORUS-GROUP TRANSFERASES
PHOSPHOTRANSFERASES
PROTEINS
SACCHARIDES
STRUCTURAL CHEMICAL ANALYSIS
TRANSFERASES