摘要
目的:研究北京地区汉族人群中线粒体DNA(m itochondrial DNA,m tDNA)多位点突变频率与2型糖尿病之间的相关性。方法:采用直接PCR、PCR-限制性片段长度多态性(restriction fragm ent length polymorph ism,RFLP)、PCR-时相温度梯度凝胶电泳(temporal temperature grad ient gel electrophoresis,TTGE)法筛查m tDNA 4977片段缺失、线粒体tRNALeu(UUR)A3243G突变和m tDNA T14577C突变。结果:在250例2型糖尿病患者及142例健康对照外周血基因组总DNA中,未发现m tDNA 4977缺失、线粒体tRNALeu(UUR)A3243G突变及m tDNA T14577C突变。结论:m tDNA 4977缺失、线粒体tRNALeu(UUR)A3243G突变及m tDNA T14577C突变在外周血中没有检出,采用常规PCR法检测2型糖尿病患者外周血线粒体DNA突变具有较大的局限性。
Objective：To study the association of common gene mutations of mitochondrial DNA （mtDNA） in patients with type 2 diabetes mellitus （DM2）. Methods： Polymerase chain reaction-restriction fragment length polymorphism （PCR- RFLP ） and Polymerase chain reaction-temporal temperature gradient gel electrophoresis （PCR-TTGE） were carried out to screen the fragment deletion of mtDNA 4977 and the mutations of tRNA ^Leu（UUR）A 3243G and mtDNA T14577C. Results： Fragment deletion of mtDNA 4977, mutations of tRNA ^Leu（UUR） A3243G and mtDNA T14577C were not found neither in DM2 nor healthy controis. Conclusion ：There is a limitation on detecting common gene mutations of mitochondfial DNA in type 2 diabetes by PCR for the heterogenicity of mtDNA in the blood samples.
出处
《军医进修学院学报》
CAS
北大核心
2006年第1期25-27,共3页
Academic Journal of Pla Postgraduate Medical School
关键词
糖尿病
非胰岛素依赖型
DNA线粒体
突变
遗传学
diabetes mellitus, non-insulin-dependent
DNA mitochondrial
mutation
genetics
