摘要
目的:探讨DNA tRNA Leu(UUR)基因及ND-1基因3316 G/A、3394 T/C等4个突变位点与2型糖尿病的关系。方法:对236例海南地区2型糖尿病患者和252例健康对照者进行空腹血糖测定并采用聚合酶链式反应—限制性核酸内切酶片段长度多态性(PCR-RFLP)的分析方法进行mtDNA的3243、3316、3394、和3593共4个位点进行突变筛选,并采用DNA测序方法确证。结果:实验组空腹血糖(9.37±3.01)mmol/L与健康对照组(4.96±0.76)mmol/L差异有统计学意义(P<0.05);实验组检出3316(G→A)突变8例,3394(T→C)突变3例;健康对照组未发现上述突变;突变检测结果与测序一致。两组间3316(G→A)突变率差异有统计学意义(P<0.05)。结论:线粒体DNAtRNALeu(UUR)基因及ND-1基因3316、3394位点的基因突变,尤其是3316位点(G→A)突变可能与某些核基因或环境因素协同促进了2型糖尿病的发生。
Objective： To explore the relationship between various mitochondrial DNA tRNA Leu （UUR）gene/ ND-1 gene mutations and type 2 diabetes. Methods： Case-control study was designed. Fasting blood glucose levels in 236 patients with type 2 diabetes mellitus （ study group） and 252 healthy subjects （ control group） were determined respectively. Polymerase chain reaction restriction fragment length polymorphism （PCR- RFLP） analysis was used first to screen point mutations of mtDNA at positions of 3243, 3316, 3394, and 3593 ; DNA sequencing was adopted to confirm the mutations followed; all the mutations were analyzed by PRIMER and NCBI BLAST softwares at last. Results ： The levels of fasting blood glucose in study group and control group were （9.37 ±3. 01 ） and （ 4. 96 ± 0. 76 ） respectively, compared with them, there was significant difference （P〈0.05）. In study group, there were 8 carriers （ 3.4% ） of 3316 G→A （Ala→Thr） mutation, 3 carriers （1.3%） of 3394 T→C （Tyr→His） mutation with type 2 diabetes mellitus. In control group, no mutation was found. There was significant difference between the two groups for 3316 G→A mutation frequencies （P 〈 0.05）. Conclusion： Mutations at np 3316, in DNA ND-1 gene, and at np3394 may play a certain role with the coactions of some nuclear DNA or/and environmental factors for the incidence of type 2 diabetes mellitus.
出处
《海南医学院学报》
CAS
2008年第2期113-115,共3页
Journal of Hainan Medical University
关键词
DNA
线粒体
突变
糠尿病
非胰岛素依赖型
聚合酶链反应
DNA, mitochondria
Mutation
Diabetes mellitus, insulin non-independent
Polymerase Chain Reaction （PCR）
