[Prevalence and clinical characteristics of the A to G variant at position 12026 of the mitochondrial ND4 gene in familial diabetes mellitus in Chinese population].
OBJECTIVE
To assess the prevalence of the A to G variant at nucleotide 12026 (mt12026) of the mitochondrial NADH-dehydrogenase subunit 4 (ND4) gene in familial diabetes mellitus in Chinese population.


METHODS
The authors screened 770 randomly selected, unrelated probands of diabetic pedigrees, and 309 controls with normal glucose tolerance for the variant by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique and PCR-direct-sequencing.


RESULTS
The mt12026 A --> G variant was detected in 28 diabetic patients (3.63%) and 9 controls (2.91%). The frequency of the variant mt12026 A --> G was not statistically different between diabetic patients and controls. Moreover, clinical characteristics such as age, body mass index (BMI), and insulin resistant index were not different between diabetic patients with and without the mt12026 mutation.


CONCLUSIONS
The mt12026 A --> G variant is a mitochondrial gene polymorphism in Chinese population, and it is unlikely that the mutation is in itself the cause of diabetes.
Wang
Sui-jun
SJ
Shanghai Diabetes Institute, Shanghai Sixth People's Hospital, Shanghai Jiaotong University, Shanghai, 200233, P. R. China.
Wu
Song-hua
SH
Zheng
Tai-shan
TS
Yang
Zhen
Z
Lu
Hui-juan
HJ
D044466:Asian People / Q000235:genetics*; D001786:Blood Glucose / Q000378:metabolism; D015992:Body Mass Index; D002681:China; D004272:DNA, Mitochondrial / Q000737:chemistry / Q000235:genetics*; D003920:Diabetes Mellitus / Q000097:blood / Q000208:ethnology / Q000235:genetics*; D005192:Family Health; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D008875:Middle Aged; D009245:NADH Dehydrogenase / Q000235:genetics*; D017354:Point Mutation; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA
D001786:Blood Glucose; D004272:DNA, Mitochondrial; C098483:NADH dehydrogenase subunit 4; D009245:NADH Dehydrogenase