摘要
目的:探讨线粒体基因突变在天津地区1型糖尿病中的发生率及其与1型糖尿病的关系。方法:随机抽取30例1型糖尿病患者,27例健康者为对照组,提取其外周血总的DNA,以聚合酶链反应-限制性片段长度多态性(PCR-RFLP)及克隆法检测线粒体基因ND1、ND4及tRNALEU(UUR)3243突变。结果:糖尿病组发现1例3394T→C突变(3.3%),1例12026A→G突变(3.3%),1例tRNALEU(UUR)3243A→G突变(3.3%)。对照组未发现线粒体基因突变者。2组间差异无统计学意义(P>0.05)。结论:1型糖尿病中3394T→C突变、12026A→G突变可能是线粒体基因变异的一种多态性表现,tRNALEU(UUR)3243A→G突变所致的线粒体糖尿病是1型糖尿病中的一种独特亚型。
Objective： To investigate the prevalence of mtDNA mutations in type 1 diabetes in Tianjin area and explore the relationship between mtDNA mutations and type 1 diabetes. Methods： Thirty type 1 diabetics and 27 controls were randomly selected as diabetes group and control group. Total genome was extracted from peripheral blood in all participants, and ND1, ND4 and tRNA^LEU（UUR）3 243 mutations were detected by PCR-RFLP and cloning techniques. Results： One 3 394T→C mutation （3.3%）, one 12 026A→G mutation （3.3%） and one tRNA^LEU（UUR）3 243A→G mutation （3.3%） were found in diabetes group. No mutation was found in control group. There was no significant difference between two groups （P 〉 0.05）. Conclusion： 3 394T→C mutation and 12 026A→G mutation in type 1 diabetes may be the polymorphism of mtDNA variance, and tRNAm^LEU（UUR）3 243A→C mutation may be a subtype of type 1 diabetes.
出处
《天津医药》
CAS
北大核心
2006年第3期154-156,共3页
Tianjin Medical Journal
关键词
糖尿病
1型
线粒体
基因
突变
diabetes mellitus, type 1 mitochondria genes mutation
