一个2型糖尿病家系中新发现的线粒体DNA G7444A 突变分析.pdfVIP

HEREDITAS (Beijing) 2007 4 , 29(4): 433437 ISSN 0253-9772 DOI: 10.1360/yc-007-0433 2 DNA G7444A , , , , , , , , 350005 : PCR-RFLP 2 DNA G7444A , , 27 , 11 DNA G7444A , 11 2 5 , 1 , , DNA G7444A , 2 : DNA; 2 ; G7444A Study on a new point mutation of nt7444 G→A in the mitochondrial DNA in a type 2 diabetes mellitus family CHENG Zu-Jian, YANG Bin, LIU Qi-Cai, JIANG Ling, XIE Hai-Hua, OU Qi-Shui Depertment of Laboratory Medicine, The First Affiliated Hospital , Fujian Medical University, Fuzhou 350005, China Abstract: 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 dia- betes 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. Keywords: mitochondrial DNA; type 2 diabetes mellitus; nt7444 G→A mutation (diabetes mellitus, DM) nt3243A G, tRNA Leu (UUR) , 10 ,nt3252T DNA(mitochondrial DNA, mtDNA) Cnt3250C Tnt3256C Tnt3260A G3316 , , G A[2,3]2 [1] DNA, DNA COI D N A , 7444 G A : : : (: FJGXY04005)[Supported by Science D