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目的 :探讨中国迟发型 2型糖尿病患者葡萄糖激酶 ( glucokinase ,GCK)基因的突变情况。方法 :收集了中国汉族 47个迟发型 2型糖尿病 (late onsetType 2diabetes)家系 ,应用多聚酶链反应 单链构像多态性 ( polymerasechainreaction singlestrandconformationpolymorphism ,PCR SSCP)的分析方法 ,对先证者GCK基因 12个外显子进行突变检测。结果 :6 ,9号外显子SSCP电泳时 ,出现异常电泳条带。测序证实在 6号内含子 38bp处发生C→T的单个碱基改变 ,变异基因频率为 35 .1%;9号内含子 8bp处发生C→T的单个碱基改变 ,变异基因频率为5 7.5 %。结论 :发现了中国人两个单核苷酸多态位点 :IVS6%D 38C→T ;IVS9%D 8C→T。GCK基因突变不是中国汉族迟发型 2型糖尿病的主要致病原因。
Objective: To investigate the mutation of glucokinase (GCK) gene in Chinese patients with late-onset type 2 diabetes mellitus. Methods: Forty-seven pedigrees with late onset type 2 diabetes mellitus (T2DM) from Chinese Han nationality were collected. PCR SSCP was used to analyze the genotypes of 12 probiotic GCK genes Exon mutation detection. RESULTS: Abnormal electrophoresis bands appeared on the SSCP electrophoresis of exon 6 and 9. Sequencing confirmed that a single base change of C → T occurred at 38 bp in intron 6, with a frequency of 35.1%. A single nucleotide change of C → T occurred at 8 bp of 9 intron. The frequency of the mutant gene was 5 7.5%. Conclusion: Two Chinese SNPs were found: IVS6% D 38C → T; IVS9% D 8C → T. GCK gene mutation is not the main cause of delayed type 2 diabetes in Chinese Han.