title: Gestational diabetes mellitus and gene mutations which affect insulin secretion.
abstract: We investigated whether genetic mutations known to impair insulin secretion and glucose tolerance are operative in a group of American women with gestational diabetes mellitus. Study groups were comprised of elderly non-diabetic controls (n = 55) with normal glucose tolerance and patients with gestational diabetes (n = 50), together with one family with maturity-onset diabetes of the young (three controls and three affected). No mutations were detected in any exon of the human glucokinase gene or the mitochondrial tRNA[Leu](UUR) gene by single strand conformational analysis and direct exon sequencing. Also, chi2 analysis showed no significant association with gestational diabetes for a polymorphism at position -30 (G --> A) of the beta-cell-specific glucokinase gene promoter. We have determined that glucokinase and mitochondrial tRNA[Leu](UUR) gene mutations, which are known to impair insulin secretion are relatively uncommon and do not constitute a large component of genetic risk for gestational diabetes in the study population.
authors.affiliation: Department of Medicine, Medical University of South Carolina, Charleston 29425, USA.
authors.forename: C J
authors.initials: CJ
authors.lastname: Allan
authors.forename: G
authors.initials: G
authors.lastname: Argyropoulos
authors.forename: M
authors.initials: M
authors.lastname: Bowker
authors.forename: J
authors.initials: J
authors.lastname: Zhu
authors.forename: P M
authors.initials: PM
authors.lastname: Lin
authors.forename: K
authors.initials: K
authors.lastname: Stiver
authors.forename: A
authors.initials: A
authors.lastname: Golichowski
authors.forename: W T
authors.initials: WT
authors.lastname: Garvey
mesh_terms: D000328:Adult; D004272:DNA, Mitochondrial / Q000032:analysis / Q000235:genetics; D016640:Diabetes, Gestational / Q000235:genetics*; D004591:Electrophoresis, Polyacrylamide Gel; D005091:Exons / Q000235:genetics; D005260:Female; D005796:Genes / Q000235:genetics / Q000502:physiology*; D005838:Genotype; D005941:Glucokinase / Q000032:analysis / Q000235:genetics; D018149:Glucose Intolerance / Q000235:genetics; D006801:Humans; D007328:Insulin / Q000378:metabolism*; D000078790:Insulin Secretion; D008875:Middle Aged; D017354:Point Mutation / Q000235:genetics / Q000502:physiology*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics; D018807:Polymorphism, Single-Stranded Conformational; D011247:Pregnancy; D011401:Promoter Regions, Genetic / Q000235:genetics; D012356:RNA, Transfer, Leu / Q000032:analysis / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial; D007328:Insulin; D012356:RNA, Transfer, Leu; D005941:Glucokinase