家族性糖尿病人群中线粒体ND-1基因点突变的分析研究  

Prevalence and clinical characteristics of the mitochondrial ND-1 gene mutations in familial diabete mellitus in Chinese population

作　　者：王遂军[1,2] 吴松华[1] 郑泰山[1] 杨震[1] 陆惠娟[1] 项坤三[1] 

机构地区：[1]上海交通大学附属第六人民医院,上海市糖尿病研究所,200233 [2]河南省人民医院二内科

出　　处：《中国糖尿病杂志》2007年第3期156-158,共3页Chinese Journal of Diabetes

摘　　要：目的了解线粒体ND-1基因mt3316G→A、mt3394T→C变异在中国家族性糖尿病人群中的发生率及其临床特点。方法应用PCR-RFLP结合直接测序方法对随机抽取的无亲缘关系的770个糖尿病家系的先证者及309例非糖尿病对照者进行线粒体基因mt3316G→A、mt3394T→C变异的筛查。结果在糖尿病先证者组中发现17例(2.21%)mt3316G→A变异,18例(2.34%)mt3394T→C变异;在正常对照组中分别发现5例(1.62%)和6例(1.94%)变异携带者,变异的发生率在两组间差异无统计学意义。在糖尿病先证者组见到2例同时携带上述两种变异者。伴mt3316G→A或mt3394T→C突变的糖尿病组与无该变异的糖尿病组之间的临床特点(年龄、体质指数、胰岛素抵抗指数)比较差异无统计学意义。结论线粒体ND-1基因mt3316G→A,mt3394T→C变异可能不是中国人线粒体糖尿病发病的致病原因,而是中国人线粒体的基因多态。Objective To assess the prevalence of the G to A mutation at nucleotide 3316 （mt3316） or the T to C mutation at nucleotide 3394（mt3394） of the mitochondrial NADH-dehydrogenase subunit 1 gene （ND-1） in familial diabete mellitus in a Chinese population. Methods In Shanghai city of China, we screened 770 randomly selected, unrelated probands of diabetes pedigrees, and 309 controls with normal glucose tolerance for the screening mutations by PCR-RFLP technique and PCR- direct- sequencecing. Results The mt3316 G→A mutation was detected in 19 diabetics （2.47%） and 5 controls （1.62%）,and the mt3394 T→C mutation was observed in 20（2.60%） of the diabetic patients and 6 （1.94%） of the controls. There was a double mutations of G3316A and T3394C, in two diabetic patients, and the double mutation was not found in controls. The frequency of the mutations of mt3316 Cr→A or mt3394 T →C was not different between diabetics and controls respectively. Moreover, clinical characteristics such as age, BMI, and insulin resistant index were not different between diabetic patients with and without the mt3316 mutation or the mt3394 mutation. Conclusion The mt3316Cr→A or mt3394T→C mutation is in a polymorphism in Chinese population, and it is unlikely that the mutation itself is the cause of diabetes.

关 键 词：糖尿病 DNA 线粒体 点突变 

分 类 号：R587.1[医药卫生—内分泌]