云南地区2型糖尿病患者线粒体tRNA^(Leu(UUR)) 3243 A/G突变的筛查

Detecting of Mitochondrial tRN^(ALeu(UUR)) Mutations at Position A3243G in Patients with Type 2 Diabetes Mellitus in Yunnan

目的探讨线粒体tRNALeu(UUR)基因3243位点A/G突变在云南地区2型糖尿病(T2DM)患者中的发生率.方法采用聚合酶链反应和限制性片段长度多态性分析(PCR-RFLP)、DNA测序技术,对235例T2DM患者和128例糖耐量正常的健康对照者进行检测.结果在235例T2DM患者及128例对照者中未检出线粒体tRNALeu(UUR)3243 A/G突变.结论线粒体tRNALeu(UUR)基因3243位点A/G突变在云南地区T2DM人群中并不常见,可能不是该地区T2DM的常见遗传易感因素.

Objective To investigate the prevalence of the mitochondrial tRNALeu(UUR) mutations at position 3243A/G in patients with type 2 diabetes mellitus in Yunnan Province. Methods Polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) analysis and DNA sequencing were used to screen the point mutations of tRNALeu(UUR)3243 A/G in 235 patients with type 2 diabetes and 128 healthy controls with normal glucose tolerance. Res ults There was no one carrier of the mitochondrial tRNALeu(UUR)mutation at position 3243A/G in T2DM group and control group. Conclus ions The mitochondrial tRNALeu(UUR)gene at position 3243A/G mutation was uncommon and it may be not a major genetic predisposing factor of type 2 diabetic mellitus in patients of Yunnan Province.