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Glucokinase  (GCK) plays a key role in glucose homeostasis. Gestational diabetes mellitus  increases the risk of gestational complications in pregnant women and fetuses.  We screened for mutations in coding and flanking regions of the GCK gene  in pregnant women with or without gestational diabetes in a Brazilian  population. A sample of 200 pregnant women classified as healthy (control, N =  100) or with gestational diabetes (N = 100) was analyzed for mutations in the GCK gene. All gestational diabetes mellitus patients had good glycemic control  maintained by diet alone and no complications during pregnancy. Mutations were  detected by single-strand conformation polymorphism and DNA sequencing.  Thirteen of the 200 subjects had GCK gene mutations. The mutations  detected were in intron 3 (c.43331A&gt;G, new), intron 6 (c.47702T&gt;C,  rs2268574), intron 9 (c.48935C&gt;T, rs2908274), and exon 10 (c.49620G&gt;A,  rs13306388). None of these GCK mutations were found to be significantly  associated with gestational diabetes mellitus. In summary, we report a low  frequency of GCK mutations in a pregnant Brazilian population and  describe a new intronic variation (c.43331A&gt;G, intron 3). We conclude that  mutations in GCK introns and in non-translatable regions of the GCK gene  do not affect glycemic control and are not correlated with gestational diabetes  mellitus.

Low prevalence of glucokinase gene mutations in gestational diabetic patients with good glycemic control