CAJ | 학술논문

用PCR-RFLP及DNA测序方法对湖北省汉族人群无血缘关系的102例发病年龄≤45岁2型糖尿病患者及104例正常对照个体的线粒体DNA tRNA Leu (UUR)基因及ND-1基因5个位点进行突变分析.实验组检出3714(A→G)突变2例,两组间仅nt3316(G→A)突变的发生率有统计学差异.推测该位点变异可能与某些核基因或环境因素协同与汉族人群中的线粒体糖尿病的早发及发展有关.
용PCR-RFLP급DNA측서방법대호북성한족인군무혈연관계적102례발병년령≤45세2형당뇨병환자급104례정상대조개체적선립체DNA tRNA Leu (UUR)기인급ND-1기인5개위점진행돌변분석.실험조검출3714(A→G)돌변2례,량조간부nt3316(G→A)돌변적발생솔유통계학차이.추측해위점변이가능여모사핵기인혹배경인소협동여한족인군중적선립체당뇨병적조발급발전유관.
PCR-RFLP and DNA sequencing were used to investigate mitochondrial DNA tRNA Leu (UUR)gene/ND-1gene mutations at five positions (nt3243,3316,3394,3593 and 3714) in 102 cases with early-onset type 2 diabetes mellitus and 104 healthy controls in Chinese Han population. Mutation at nt3714 A→G was first reported in patients with early-onset type 2 diabetes mellitus. There was significant difference between the two groups in the 3316 G→A mutation frequency (P<0.05).The mutation at nt 3316 in DNA ND-1 gene might play a role in the interactions between some nuclear DNA and environmental factors in Chinese early-onset mitochondrial diabetes