目的探讨葡萄糖激酶(Glucokinase,GCK)基因微卫星DNA多态性与2型糖尿病的相关性。方法采用扩增片段长度多态性(The amplified of fragment-length polymorphism,Amp-FLP)分析法,选取贵阳本地62例2型糖尿病患者和69例正常对照组,以GCK基因3′端重复序列两端序列设计引物进行扩增,经丙烯酰胺凝胶电泳及扩增片段测序分析,鉴定片段型(基因型)。用卡方检验来检测两组间GCK等位基因及基因型频率差异显著性。结果在所有样本中,鉴定出3种等位基因片段:A型195bp、B型197bp、C型199bp。糖尿病组和对照组上述3种等位基因频率分别为:54%/42%、23%/36%、23%/22%;组成的6种基因型即:AA、BB、CC、AB、AC、BC型,其基因型频率分别为:34%/23%、10%/22%、24%/16%、16%/22%、5%/10%、11%/7%。2组间等位基因频率和基因型频率比较,B型等位基因频率有显著差异(P<0.05),其余等位基因频率、基因型频率差异均无显著意义(P>0.05)。结论葡萄糖激酶基因微卫星标记与2型糖尿病相关;等位基因B与2型糖尿病的低发生相关,在本地人群中可能是一种保护性标记。 Objective To investigate the relationship between microsatellite DNA polymorphism of glucokinase (GCK) gene and type 2 diabetes mellitus (T2DM). Methods Sixty-two patients with type 2 diabetes mellitus and 69 normal controls were enrolled in this study. The amplified fragment length polymorphism (Amp-FLP) The primers were designed and amplified by end sequence. The fragments (genotypes) were identified by acrylamide gel electrophoresis and sequencing of amplified fragments. Chi-square test was used to test the significance of GCK allele and genotype frequencies between two groups. Results In all samples, 3 alleles were identified: 195 bp for type A, 197 bp for type B and 199 bp for type C. The frequencies of the above three alleles in the diabetic group and the control group were 54% / 42%, 23% / 36% and 23% / 22% respectively. The six genotypes were AA, BB, CC, AB, AC , Genotypes of BC genotypes were 34% / 23%, 10% / 22%, 24% / 16%, 16% / 22%, 5% / 10% and 11% / 7%, respectively. There were significant differences in allele frequency and genotype frequency between the two groups (P <0.05), and no significant difference was observed in the other allele frequencies and genotype frequencies (P> 0.05). Conclusion The microsatellite markers of glucokinase gene are associated with type 2 diabetes mellitus; allele B is associated with the low incidence of type 2 diabetes and may be a protective marker in the local population.