Gestational diabetes mellitus and gene mutations which affect insulin secretion

Diabetes Res Clin Pract. 1997 Jun;36(3):135-41. doi: 10.1016/s0168-8227(97)00042-9.


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.

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • DNA, Mitochondrial / analysis
  • DNA, Mitochondrial / genetics
  • Diabetes, Gestational / genetics*
  • Electrophoresis, Polyacrylamide Gel
  • Exons / genetics
  • Female
  • Genes / genetics
  • Genes / physiology*
  • Genotype
  • Glucokinase / analysis
  • Glucokinase / genetics
  • Glucose Intolerance / genetics
  • Humans
  • Insulin / metabolism*
  • Insulin Secretion
  • Middle Aged
  • Point Mutation / genetics
  • Point Mutation / physiology*
  • Polymerase Chain Reaction
  • Polymorphism, Genetic / genetics
  • Polymorphism, Single-Stranded Conformational
  • Pregnancy
  • Promoter Regions, Genetic / genetics
  • RNA, Transfer, Leu / analysis
  • RNA, Transfer, Leu / genetics


  • DNA, Mitochondrial
  • Insulin
  • RNA, Transfer, Leu
  • Glucokinase