【摘要】 目的 :了解线粒体基因突变在我国2型糖尿病 (DM)人群中的存在情况 ,并为建立一种简便、快速的线粒体基因突变糖尿病的诊断方法提供基础。方法 :采用PCR -RFLP方法对随机抽取的无亲缘关系的178例2型DM患者和150例健康对照的线粒体DNA突变热点区域tRNALeu(UUR)基因及其邻近区域内(nt2995～3494)4个位点 ,即nt3243、3316、3394、3426进行突变筛查。结果 :在178例2型DM患者中发现5例nt3316G→A突变 ;对照组中未检出任何突变(P<0.05)。nt3316G→A突变频率为2 81% ,突变使非极性的丙氨酸被极性的苏氨酸所取代 (GCC→ACC)。结论 :nt3316G→A突变可能是2型糖尿病的易感因素之一。该方法简便易行 ,具有较高的特异性和敏感性 ,为线粒体基因突变糖尿病的临床诊断及群体筛查提供了基础更多还原

【Abstract】 Objective:To develop a clinical genetic diagnostic technique for mitochondr ial gene mutation in patients with type 2 diabetes mellitus(DM).Methods:Four pos itions(nt3 243,3 316,3 394 and 3 426)were screened in 178 randomly selected and unrelated patients with type 2 DM(group I) and 150 normal controls(group II) by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP).R esults:Five patients with the mutation of mtDNA nt3 316 G→A were identified in group I and no mutation was detected in group II(P<0.05).The prevalence of nt3 3 16 G→A mutation was 2.81%.This mutation changed a nonpolar alanine into a pola r threonine(GCC→ACC).Conclusion:The point mutation at nt3 316 G→A may confer a higher susceptibility upon type 2 DM.This diagnostic technique is a high specia l,high sensitive and time-saving method,which can be performed in clinical diag nosis and colonial screening.更多还原