线粒体tRNA^(Leu(UUR))nt3256C→T突变与2型糖尿病

Associations between the C to T Mutation at Nucleotide 3256 of Mitochondrial tRNA^(Leu(UUR)) Gene and Type 2 Diabetes Mellitus

目的了解线粒体tRNALeu(UUR)基因mt3256C→T突变在河南地区汉族2型糖尿患者群中的发生率及其与糖尿病的关系。方法应用PCR-限制性片断长度多态性技术结合直接测序方法对随机抽取的无亲缘关系的138例2型糖尿病患者及104例正常对照者进行线粒体基因tRNALeu(UUR)mt3256C→T突变的筛查。结果2型糖尿病组和正常对照组均未发现tRNALeu(UUR)mt3256C→T突变。结论线粒体tRNALeu(UUR)基因mt3256C→T突变可能不是线粒体糖尿病发病的原因。

Objective To assess the prevalence of the C to T mutation at nucleotide 3256 （mt3256） of the mitochondrial transfer RNA^Leu （ tRNA^Leu ） gene in type 2 diabetes mellitus （T2DM） in Henan Han population and their relationship. Methods Total 138 cases randomly selected, unrelated T2DM cases and 104 matched healthy controls were screened for the mutation by polymerase chain reaction - restriction fragment length polymorphism（ PCR - RFLP） technique and PCR - direct - sequencing. Results The mt3256 mutation were not identified in the type 2 diabetic patients and the controls. Conclusion The tRNA^Leu^（UUR）/mt3256C→T mutation seems not be related to diabetes mellitus.