摘要
目的探讨线粒体基因突变与2型糖尿病的关系。方法随机筛查222例散发2型糖尿病患者和191名正常对照，以聚合酶链反应、限制性内切酶片段长度多态性及T-A克隆测序和变性高效液相色谱分析技术验证等方法检测线粒体基因突变。结果糖尿病组线粒体基因（3153—3551nt）突变总的发生率（24．32％）明显高于正常组（7．33％）（P〈0．05）；发现3个尚未见报道的新突变位点：A3209T、T3253G和A3467C，而C3497T则在糖尿病中是首次报道；起病年龄、体重指数、空腹血糖、糖化血红蛋白、高密度脂蛋白和糖尿病肾病等指标是线粒体基因突变的相关因素（P〈0．05）。结论温州地区糖尿病患者存在多种线粒体基因点突变，其在糖尿病的发生发展中起重要作用。
Objective To explore the relationship between type 2 diabetes mellitus （T2DM） and the mutations in the fragment of mitochondrial DNA （mtDNA） from nucleotides 3153 to 3551, which have shown high frequency of point mutation. Methods One hundred and ninety-one normal controls and 222 patients with T2DM were screened by polymerase chain reaction-restriction fragment length polymorphism （ PCR-RFLP）, T-A cloning sequencing and denatured high performance liquid chromatography （DHPLC） techniques. Results The prevalence of mtDNA mutations in the patient group （24.32%） was significantly higher than that in the control group （7.33%） （ P 〈 0.05）. Three novel mutations of A3209T, T3253G and A3467C were found, and C3497T was first reported in DM. Onset age, body mass index, fasting blood glucose, HbA1C, high density lipoprotein-cholesterol and diabetic nephropathy could be related to occurrence of mtDNA mutations （ P 〈 0.05 ）. Conclusion Mitochondrial DNA mutations might implicate T2DM in Wenzhou population,which should play an important role in the pathogenesis of T2DM.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2007年第2期167-172,共6页
Chinese Journal of Medical Genetics
基金
国家自然科学基金（30470958）
浙江省教育厅资助（20061789）
温州市科技局资助（Y2005A029）
关键词
线粒体DNA
糖尿病
突变
mitochondrial DNA
diabetes mellitus
mutation
