携带线粒体DNA ND4区12026A→G点突变的糖尿病家系临床特点

目的在以往工作的基础上，分析线粒体基因ND412026A→G突变的糖尿病家系临床特点。方法两个携带此点突变的家系共25人，收集相应临床资料，提取外周血基因组DNA，以PCR-RFLP法检测线粒体基因ND4区np12026突变，并分析其临床特征。结果两个家系中共发现13例该点突变，发现5例糖尿病患者，3例甲亢患者（其中1例合并糖尿病），未发现耳聋。结论线粒体基因ND412026A→G突变携带者的家系临床表现多样，并可能与自身免疫相关。

Clinical characteristics of diabetic pedigree with mtDNA 12026A→G mutation in Nd4 region

Objective To investigate clinical traits of 2 families members habouring mtDNA 12026A→G mutation based on our previous studies. Methods 25 members in 2 families with probands with mtDNA 12026 mutation were examined. All their clinical and biochemical data were collected. Total genome was extracted conventionally from peripheral leucocytes of all participants, and PCR-RFLP techniques were applied to screen A to G substitution at nucleotide 12026 of mtDNA in ND4 region. Results We found 13 individuals habouring the 12026 A→G mutation in 2 pedigrees, all without deafness. Among them, 5 with diabetes were found. Interestingly, we found 3 individuals with hyperthyroidism in one family（one also combined with diabetes）. Conclusions Our findings suggest that diabetic families with mtDNA 12026 A→G mutation in ND4 region can have different clinical pictures, and may involve in autoimmune diseases.