title: Absence of the Gly40-ser mutation in the glucagon receptor gene in Japanese subjects with NIDDM.
abstract: Recent studies have shown both association and linkage between a Gly40-Ser mutation in the glucagon receptor gene and NIDDM in French patients with familial NIDDM. This mutation was present in heterozygous form in 4.6% of diabetic probands but only 1% of the French population, suggesting that it was an important risk factor in the development of NIDDM. A total of 348 unrelated Japanese subjects (220 with NIDDM, 53 with impaired glucose tolerance (IGT) and 75 normal subjects) were screened for the presence of the Gly40-Ser mutation. Seventy-two percent of the NIDDM patients and 52% of IGT subjects had a positive family history of NIDDM. The Gly40-Ser mutation, which could be readily detected in a positive control subject, was not found in any of the 348 Japanese subjects studied. Thus, the Gly40-Ser mutation does not play an important role in the pathogenesis of NIDDM in Japanese patients.
authors.affiliation: Diabetes Center, Tokyo Women's Medical College, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Ogata
authors.forename: N
authors.initials: N
authors.lastname: Iwasaki
authors.forename: H
authors.initials: H
authors.lastname: Ohgawara
authors.forename: S
authors.initials: S
authors.lastname: Karibe
authors.forename: Y
authors.initials: Y
authors.lastname: Omori
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D001345:Autoradiography; D003924:Diabetes Mellitus, Type 2 / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D005787:Gene Frequency; D018149:Glucose Intolerance / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D018027:Receptors, Glucagon / Q000235:genetics*
chemical_list: D018027:Receptors, Glucagon