摘要
目的:探讨线粒体tRNALeu(UUR)3243A→G突变所致糖尿病的临床特征及治疗原则。方法:应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)对338例随机抽样无亲缘关系的糖尿病患者和132名正常人进行线粒体tRNALeu(UUR)3243A→G突变的检测,并对阳性患者进行临床分析。结果:糖尿病组共检测出6个先证者(1.8%),并在这些家系中共发现13例该突变的糖尿病患者。大部分患者为消瘦体型,10例伴有神经性耳聋,除1例外其他均需用胰岛素治疗。另外,在同一家系中,子代的糖尿病发病年龄明显低于母辈的发病年龄。结论:线粒体tRNALeu(UUR)3243A→G突变所致糖尿病是胰岛β细胞功能缺陷型糖尿病,因此对携带此突变基因者应进行随访,已确诊的患者在可能的条件下应尽早用胰岛素治疗。
Objective:To discuss clinical features and treatment of diabetic subtype caused mitochondrial tRNALeu (UUR) 3243 A→G mutation. Methods:Mitochondial tRNALeu (UUR) 3243 A→G mutation was detected by using PCR RFLP techniques in 338 randomly selected diabetic patients and 132 control subjects. Results:Six unrelated probands (1.8%) were detected with mutation at position 3243 A→G in diabetic patients. 13 diabetic patients from first degree relatives of those families were also identified with the mutation, of whom ten patients were associated with hearing loss and 12 patients required insulin therapy. All patients had a lower frequency of obesity in the past, and were young at diagnosis. In a family, the age at onset of a son is apparently younger than that of a mother. Conclusion:Since the 3243 A→G mutation may play a role in the pathogenesis of diabetes, further follow up observations are needed to carry this mutation in family.
出处
《新医学》
北大核心
2001年第10期587-589,共3页
Journal of New Medicine
关键词
糖尿病
线粒体
聚合酶链反应
限制性片段长度多态性
胰岛素
TRNA
Diabetes
Mitochondrial
Mutation
Polymerase chain reation
Restriction fragment length polymorphisms
Insulin
