Cheng Zu-Jian, Yang Bin, Liu Qi-Cai, Jiang Ling, Xie Hai-Hua, Ou Qi-Shui
Department of Laboratory Medicine, The First Affiliated Hospital, Fujian Medical University, Fuzhou 350005, China.
Yi Chuan. 2007 Apr;29(4):433-7. doi: 10.1360/yc-007-0433.
Polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) and direct sequencing were applied to detect a new point mutation of nt7444G-->A in the mitochondrial DNA in a type 2 diabetes mellitus family. The related clinical data were also collected and analyzed. mtDNA G7444A mutation in the cytochrome c oxidase I (COI) gene was found in 11 of 27 cases, all of whom were from the maternal side. Among them, 5 were confirmed to have type 2 diabetes mellitus, and one had impaired glucose tolerance. We conclude that the novel point mutation of mtDNA G7444A may be an independent factor associated with type 2 diabetes mellitus.
应用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）和直接测序技术检测一个2型糖尿病家族中线粒体DNA nt7444G→A的新点突变。同时收集并分析相关临床资料。在27例患者中，发现11例细胞色素c氧化酶I（COI）基因存在mtDNA G7444A突变，所有突变个体均来自母系。其中，5例确诊为2型糖尿病，1例糖耐量受损。我们得出结论，mtDNA G7444A新点突变可能是与2型糖尿病相关的独立因素。
