[Contribution of MODY6 gene in the pathogenesis of familial type 2 diabetes in Chinese population].
OBJECTIVE
To investigate the contribution of MODY6 gene in the pathogenesis of familiar type 2 diabetes in Chinese population.


METHODS
PCR and single strand configuration polymorphism (PCR-SSCP) technique was used to screen the coding sequence of NeuroD1/BETA2 gene for DNA variants in 188 probands in the pedigrees of familiar type 2 diabetes and 130 normal persons as controls in Beijing, China. The discovered variants were confirmed by sequencing.


RESULTS
A4T5 polymorphism and a novel Gly12Arg mutation were found. The frequency of A4T5 of the patients was 19.7%, significantly higher than that of the controls (10.0%, P < 0.05). In the control group, the Homa-beta of the 13 subjects with T allele was 4.6 +/- 04, significantly lower than that of the 117 subjects without T allele (4.9 +/- 0.5, P < 0.05). Co-segregating with diabetes, Gly12Arg mutation was found in only one pedigree and in none normal subjects.


CONCLUSIONS
A4T5 polymorphism of NeuroD1/BETA2 gene is correlated with familiar type 2 diabetes in Chinese population. NeuroD1/BETA2 gene or its nearby gene may play a role in the pathogenesis of familiar type 2 diabetes. The novel GlyArg mutation may be a genetic cause of some diabetic pedigrees.
Han
Xue-yao
XY
Diabetes Center of Peking University, Department of Endocrinology, People's Hospital Peking University, Beijing 100044, China.
Liu
Chun-yan
CY
Ji
Li-nong
LN
D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics; D051792:Basic Helix-Loop-Helix Proteins / Q000235:genetics*; D016022:Case-Control Studies; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D011110:Polymorphism, Genetic; D055815:Young Adult
D051792:Basic Helix-Loop-Helix Proteins; C093970:NEUROD1 protein, human