Allan C J, Argyropoulos G, Bowker M, Zhu J, Lin P M, Stiver K, Golichowski A, Garvey W T
Department of Medicine, Medical University of South Carolina, Charleston 29425, USA.
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 tRNALeu 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 tRNALeu 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.
我们调查了已知会损害胰岛素分泌和葡萄糖耐量的基因突变在一组患有妊娠期糖尿病的美国女性中是否起作用。研究组包括糖耐量正常的老年非糖尿病对照组（n = 55）和妊娠期糖尿病患者（n = 50），以及一个患有青年发病型成年糖尿病的家庭（三名对照和三名患者）。通过单链构象分析和直接外显子测序，未在人类葡萄糖激酶基因或线粒体tRNALeu基因的任何外显子中检测到突变。此外，chi2分析显示，β细胞特异性葡萄糖激酶基因启动子-30位（G→A）的多态性与妊娠期糖尿病无显著关联。我们已经确定，已知会损害胰岛素分泌的葡萄糖激酶和线粒体tRNALeu基因突变相对不常见，并且在研究人群中并非妊娠期糖尿病遗传风险的主要组成部分。
