线粒体基因突变糖尿病一家系分析  

Genetic and clinical characteristics of a family with diabetes caused by mitochondrial gene mutation

作　　者：齐婷 王述进 张彦 张李钰 左红 黎国红 牛瑜 冯佳 马磊 刘旭峰 杨华 刘宋芳 杨颖[2] 

机构地区：[1]西安市第九医院内分泌科,710054 [2]西安市儿童医院陕西省儿科疾病研究所,710002

出　　处：《中华诊断学电子杂志》2017年第1期46-50,共5页Chinese Journal of Diagnostics(Electronic Edition)

基　　金：西安市科技计划项目[SF1510(4)]

摘　　要：目的对一线粒体基因突变糖尿病家系临床特点及基因突变结果进行分析,以提高临床对线粒体基因突变糖尿病的认识。方法提取家系成员外周血脱氧核糖核酸(DNA),采用靶向捕获的二代测序技术对先证者的线粒体基因组及其相关的核基因进行分析,家系内其他成员采用一代测序进行验证,同时收集家系的临床资料。结果参加调查的8位家系成员中,检测到线粒体DNA(mtDNA)3243A>G突变的有3例,其中已经发病的糖尿病患者2例,另有1例糖尿病患者并未检测到mtDNA 3243A>G突变。2例糖尿病患者发病年龄在40岁以前,3例糖尿病患者体重指数(BMI)偏低,自身免疫性糖尿病抗体阴性,伴随有神经性耳聋。1例成员虽有3243基因位点突变,但尚未表现为糖尿病。结论 mtDNA 3243A>G突变为该家系糖尿病发病的原因,其临床表现符合发病早、体质量低、伴随神经性耳聋的特点。Objective To analyze the clinical characteristics and gene mutation results in a family with diabetes, in order to improve the knowledge of the diabetes caused by mitochondrial gene mutation. Methods Genomic DNA was extracted using standard procedure from peripheral blood of the family members, and targeted next generation sequencing was performed on the proband to capture and sequence the entire mtDNA and nuclear genes related to mitochondrial structure and function.Moreover, other patients and members from the family were performed directed sanger sequence to detect the genetic information of the mitochondrial genes. Meanwhile clinical data were collected and analyzed. Results mtDNA 3243A 〉 G mutation was detected in 3 of 8 members in the family. Among these 3 members, 2 cases were diagnosed diabetes by the onset before the age of 40,with low body mass index （BMI）, negative autoimmune diabetes antibody and accompanied by nerve deafness. In addition, another member aged 10 was detected mtDNA 3243A〉G mutation without clinical diabetes characteristics until now. Conclusion mtDNA 3243A 〉 G mutation is the cause of the diabetes of this family, and the clinical manifestation of the patients with early onset,low body weight and nerve deafness conforms to the mitochondrial diabetes.

关 键 词：糖尿病 基因 线粒体 突变 临床特点 

分 类 号：R587.1[医药卫生—内分泌]