Han H, Wang S, Ji L
Department of Obstetrics, People's Hospital, Beijing Medical University, Beijing 100044.
Zhonghua Fu Chan Ke Za Zhi. 1999 Jan;34(1):23-6.
To evaluate the role of glucokinase(GCK) gene in the pathogenesis of gestational diabetes mellitus (GDM) in Chinese.
Two microsatellite polymorphisms, GCK1 and GCK2 which located at approximately 10 Kb 3' and 6 Kb 5', respectively, of the human glucokinase gene on chromosome 7p13, were genotyped in 40 unrelated gestational diabetics and 43 controls.
Four alleles (A, B, C, D) and seven genotypes were identified at the GCK1 locus. There was no significant difference in allele and genotype frequency between GDM and control groups at the GCK1 locus. For GCK2, four alleles(1,2,3,4) and eight genotypes were detected. When compared with control subjects, the GDM group had a much less frequency of the allele 2 (51.3% vs 69.8%, chi 2 = 5.965, P = 0.015), and a much more frequency of allele 3(31.3% vs 17.4%, chi 2 = 4.321, P = 0.038). Nine haplotypes of GCK1 and GCK2 were observed and haplotype B/2 was much less in GDM group(1.9% vs 19.4%, RR = 0.078 6, P = 0.003). Among the GDM patients, comparing with carriers of other alleles, the carriers of allele 3 of GCK2 locus had significantly elevated fasting and 2 hour's blood glucose levels during OGTT, and their insulin levels at 2nd and 3rd hour during the OGTT test were significantly decreased. Our results suggest that GCK gene was associated with Chinese GDM, and haplotype of GCK1/GCK2 B/2 was a protective factor for GDM.
评估葡萄糖激酶（GCK）基因在中国妊娠期糖尿病（GDM）发病机制中的作用。
对40例无亲缘关系的妊娠期糖尿病患者和43例对照者，进行位于7号染色体p13上人类葡萄糖激酶基因约3'端10 Kb和5'端6 Kb处的两个微卫星多态性GCK1和GCK2的基因分型。
在GCK1位点鉴定出四个等位基因（A、B、C、D）和七种基因型。GCK1位点的等位基因和基因型频率在GDM组和对照组之间无显著差异。对于GCK2，检测到四个等位基因（1、2、3、4）和八种基因型。与对照组相比，GDM组中2号等位基因频率较低（51.3%对69.8%，χ2 = 5.965，P = 0.015），3号等位基因频率较高（31.3%对17.4%，χ2 = 4.321，P = 0.038）。观察到GCK1和GCK2的九种单倍型，GDM组中B/2单倍型较少（1.9%对19.4%，RR = 0.078 6，P = 0.003）。在GDM患者中，与其他等位基因携带者相比，GCK2位点3号等位基因携带者在口服葡萄糖耐量试验（OGTT）期间的空腹和2小时血糖水平显著升高，且在OGTT试验第2小时和第3小时的胰岛素水平显著降低。我们的结果表明，GCK基因与中国GDM相关，GCK1/GCK2 B/2单倍型是GDM的保护因素。
