PMID: 8325443Aug 1, 1993Paper

Sequence variations of the glucokinase gene in Japanese subjects with NIDDM

Diabetes
K EtoT Kadowaki

Abstract

Mutations in the glucokinase gene have been identified recently in patients with maturity-onset diabetes of the young, a subtype of NIDDM. The proposed role of glucokinase as a glucose sensor, combined with the low insulin response to glucose found in most Japanese with NIDDM, prompted us to speculate that mutations in the glucokinase gene might be one of the major causes of NIDDM in Japanese subjects. To determine the prevalence of mutations and sequence variations in the glucokinase gene, we screened all 12 exons of the glucokinase gene, including exon/intron junctions, by polymerase chain reaction followed by single-strand conformation polymorphism in 209 Japanese NIDDM subjects. In addition to the mutation in exon 7, which substituted Arg (AGG) for Gly (GGG) at codon 261 (10), a silent mutation of Pro (CCC-->CCG) in exon 4 at codon 145 and several new sequence variations in intervening sequences and the 5'-untranslated region of exon 1 beta (beta-cell-specific exon 1) were identified. Because we identified only one subject who had a structurally abnormal glucokinase molecule, we conclude that the prevalence of structural mutations in the glucokinase gene responsible for NIDDM appears to be rare among Japanese patients. To o...Continue Reading

Citations

Jan 1, 1995·Muscle & Nerve. Supplement·T KadowakiY Yazaki
Nov 26, 2010·Human Genetics·Yunfeng ShenJianping Weng
Dec 7, 2000·Diabetes Research and Clinical Practice·J H NamK B Huh
Jun 1, 1997·Diabetes Research and Clinical Practice·C J AllanW T Garvey
Jul 1, 1995·Baillière's Clinical Endocrinology and Metabolism·T J Aitman, J A Todd
Apr 7, 1994·The New England Journal of Medicine·T KadowakiY Goto
Jan 1, 1996·Annual Review of Medicine·C R KahnA Doria
Aug 26, 1998·Annual Review of Nutrition·F BoschA Valera
Apr 1, 1994·Diabetologia·J C AlcoladoA H Barnett
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Oct 1, 1994·Diabetes Research and Clinical Practice·Y Oka
Nov 1, 1994·Diabetic Medicine : a Journal of the British Diabetic Association·E DowD G Johnston

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