[Study on a new point mutation of nt7444 G-->A in the mitochondrial DNA in a type 2 diabetes mellitus family].
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.
Cheng
Zu-Jian
ZJ
Department of Laboratory Medicine, The First Affiliated Hospital, Fujian Medical University, Fuzhou 350005, China. chengzujian@163.com
Yang
Bin
B
Liu
Qi-Cai
QC
Jiang
Ling
L
Xie
Hai-Hua
HH
Ou
Qi-Shui
QS
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009245:NADH Dehydrogenase / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D017422:Sequence Analysis, DNA; D055815:Young Adult
D004272:DNA, Mitochondrial; D009245:NADH Dehydrogenase