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目的 探讨天津地区早发糖尿病(DM)患者线粒体DNA tRNALeu(UUR) 3243 A→G突变的发生率及其相关性。 方法 随机选取无亲缘关系、发病年龄≤45 岁的DM患者348 例,对照组207名,收集相应临床资料,提取外周血基因组DNA, 以聚合酶链反应、限制性内切酶片段长度多态性及克隆的方法检测线粒体基因tRNALeu(UUR) 3243 A→G突变,并进行家系研究。 结果 DM组发现2例3243 A→G突变,检出率为0 6%,有家族史的DM患者中发生率为1 2%。对照组未发现此突变。3243 A→G突变先证者呈典型的线粒体DM表现,其家庭成员的临床表型和基因突变异质性不一致。 结论 tRNALeu(UUR)3243 A→G突变在天津地区发病年龄≤45 岁的DM患者中检出率低,在合并其他线粒体病的患者中发生率较高;该突变异质性比例在有丝分裂组织中可能随年龄增加而减小。
Objective To investigate the incidence of mitochondrial DNA tRNALeu (UUR) 3243 A → G mutation in patients with early-onset diabetes mellitus (DM) in Tianjin and its correlation. Methods A total of 348 unrelated DM patients with onset age ≤45 years and 207 control subjects were enrolled in this study. The corresponding clinical data were collected and the genomic DNA of peripheral blood was extracted. The polymerase chain reaction, restriction fragment length polymorphism And cloning method to detect the mitochondrial gene tRNALeu (UUR) 3243 A → G mutation, and conduct pedigree research. Results Two cases of 3243 A → G mutation were found in DM group, the detection rate was 0.6%. The incidence of DM in family history was 12%. The control group did not find this mutation. The 3243 A → G mutation proband showed a typical mitochondrial DM performance. The heterogeneity of clinical phenotype and gene mutation in his family members was not consistent. Conclusions The detection rate of tRNALeu (UUR) 3243 A → G mutation is low in DM patients with onset age ≤45 years in Tianjin and higher in patients with other mitochondrial diseases. The mutation heterogeneity in mitosis May decrease with age.