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目的 探讨中国 40岁以下发病的糖尿病患者线粒体基因tRNALeu(UUR) 32 43A→G突变的发生率。方法 117例 40岁以下发病且有糖尿病家族史的糖尿病以及 90例 40岁以下发病无糖尿病家族史的糖尿病患者和 5 0例正常人分别测定体重指数 (BMI)、臀腰比 (WHR)、了解代谢控制、胰腺分泌和胰岛素抵抗等情况并用PCR RFLP检测线粒体基因tRNALeu(UUR) 32 43A→G突变。结果 糖尿病 2亚组BMI分别为 (2 5 .1± 3.1)和 (2 4.1± 3.4)kg/m2 ,差异无显著性 ;FBG、HbA1c均较高 ,且存在明显胰岛素抵抗 (HOMA IR 3.41～ 9.2 9)。在 2 0 7例患者中发现 1例线粒体基因tRNALeu(UUR) 32 43A→G突变患者。在该患者家系中又发现 5例存在线粒体基因突变 ,其中 2例为非糖尿病患者。这些患者的共同特点是耳聋伴或不伴糖尿病 ,糖尿病患者消瘦较早使用胰岛素。结论 中国 40岁以下发病的糖尿病患者线粒体基因突变发生率约为 0 .48%,有家族史者约为 0 .85 %。
Objective To investigate the incidence of 32 43A → G mutation of mitochondrial gene tRNALeu (UUR) in Chinese patients under 40 years of age. Methods One hundred and seventy-one cases of diabetes mellitus with family history of diabetes under 40 years of age and 90 cases of diabetes mellitus without family history of diabetes under 40 years of age and 50 normal persons were measured for body mass index (BMI) and hip-waist ratio (WHR) Metabolic control, pancreatic secretion and insulin resistance, and PCR RFLP was used to detect the mitochondrial tRNALeu (UUR) 32 43A → G mutation. Results The BMI in Diabetes 2 subgroup was (21.5 ± 3.1) and (2.41 ± 3.4) kg / m 2, respectively, with no significant difference. FBG and HbA1c were higher and there was significant insulin resistance (HOMA IR 3.41-9.2 9). One case of mitochondrial gene tRNALeu (UUR) 32 43A → G was found in 207 patients. In the pedigree, 5 cases were found to have mitochondrial gene mutations, of which 2 were non-diabetic patients. The common feature of these patients is deafness with or without diabetes, diabetics who use insulin earlier than others. Conclusion The prevalence of mitochondrial DNA mutations in Chinese patients under 40 years of age is about 0.48%, with a family history of about 0.85%.