The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.
The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.
Patent No.:
Date of Patent:
Jul. 30, 1996
Filed:
Apr. 22, 1992
Graeme I Bell, Chicago, IL (US);
Markus Stoffel, Chicago, IL (US);
Jun Takeda, Chicago, IL (US);
Nathalie Vionnet, Chicago, IL (US);
Kazuki Yasuda, Chicago, IL (US);
Simon J Pilkis, St. James, NY (US);
Habib Zouali, Arcueil, FR;
Gilberto Velho, Paris, FR;
Daniel Cohen, Sauigny/Orge, FR;
Philippe Froguel, Bagnolet, FR;
Arch Development Corporation, Chicago, IL (US);
Abstract
The invention relates to the observed tight linkage between DNA polymorphisms in the glucokinase gene (GCK) on the short arm of chromosome 7, and NIDDM in a cohort of sixteen French families having MODY. It further relates to identification of mutations in GCK and their linkage with diabetes in particular families are disclosed. This invention provides the first evidence implicating specific mutations in a gene involved in glucose metabolism in the pathogenesis of NIDDM. The invention further discloses the isolation and characterization of human pancreatic .beta.-cell GCK and a method for searching for mutations that cause early-onset NIDDM. To assess the effect of these mutations on glucokinase activity, a method is disclosed for generating an .alpha.-carbon backbone model for human glucokinase based on the crystal structure of the structurally-related yeast hexokinase B. Thus, in its most general sense, the invention relates to a method for detecting a propensity to develop early-onset, non-insulin-dependent diabetes mellitus.