母系遗传糖尿病伴耳聋家系线粒体基因分析  

Mitochondrial gene analysis of maternal inherited diabetes with deafness family

作　　者：李云锋[1] 游雅丽[2,3] 王东[3] 赵新波[4] 郭振奎[2,3] 

机构地区：[1]邹平县人民医院内分泌科,山东邹平256200 [2]济南大学山东省医学科学院医学与生命科学学院,山东济南250062 [3]山东省内分泌与代谢病研究所,山东济南250062 [4]临沂市人民医院内分泌科,山东临沂276000

出　　处：《中国卫生检验杂志》2017年第8期1146-1148,共3页Chinese Journal of Health Laboratory Technology

摘　　要：目的对6个母系遗传糖尿病伴耳聋家系行线粒体基因测序,观察线粒体基因突变与糖尿病之间的关系。方法从近年来筛选的糖尿病遗传家系资源库中选取6个母系遗传糖尿病伴耳聋家系成员22例,对线粒体3069-3842片段进行直接测序,以明确是否有线粒体基因突变。结果 1号家系发现线粒体G3316A突变、2号家系发现T3394C突变、3号家系4人均发现A3243G突变。结论线粒体A3243G突变糖尿病比较少见,在有母系遗传伴耳聋患者中可提高检出率;线粒体G3316A、T3394C突变可出现在健康人群中,不是糖尿病的独立致病因素。Objective Mitochondrial DNA sequencing was performed in six maternal inherited diabetes with deafness family, so as to observe the relationship between the mitochondrial genemutation and diabetes mellitus. Methods A total of 22 cases in six maternal inherited diabetes with deafness family were selected from diabetes genetic family resources in recent years. Mitochondrial 3069 -3842 fragments were sequenced directly to determine if there were mitochondrial gene mutations. Results No. 1 family was found with mitochondrial G3316A mutation, No. 2 family was found with T3394C mutation, and in No. 3 family, A3243G mutation was found in all the four members. Conclusion Mitochondrial A3243G mutation diabetes is relatively rare, in mater- nally inherited patients with deafness, which can improve the detection rate; mitochondrial G3316A, T3394C mutations can oc- cur in healthy people, which is not an independent risk factor for diabetes mellitus.

关 键 词：线粒体 糖尿病 基因突变 

分 类 号：R587.1[医药卫生—内分泌]