title: [Mutation screening of GCK gene in Chinese early-onset diabetes population].
abstract: OBJECTIVE
  To investigate the prevalence of mutations and sequence variations of glucokinase gene GCK in Chinese early-onset diabetes population.
  
  
  METHODS
  The study was conducted in 174 unrelated Chinese residents, including 80 nondiabetic controls, 94 probands of early-onset diabetes pedigree. Direct sequencing was performed to screen all 10 exons of glucokinase gene, including promoter and exon/intron junctions.
  
  
  RESULTS
  No mutations were identified in coding region, but several previously reported sequence variants were identified. 5'-untranslated region of exon 1a, 84 bp upstream of the translation initiation site GGCGG to GGGGG(early-onset diabetes group G allele frequency 0.106 vs control group 0.075, P=0.355); IVS1b+12 (A-->T) (early-onset diabetes group T allele frequency 0.005 vs non-identity of this variation in control group); IVS 5+29 (G-->T) (early-onset diabetes group T allele frequency 0.027 vs control group 0.019, P=0.731); IVS 9+8 (T-->C) (early-onset diabetes group C allele frequency 0.585 vs 0.694, P=0.044). A novel variation IVS 9+49 (G-->A) (early-onset diabetes group A allele frequency 0.011 vs control 0.006, P=1.000) was identified. There were no significant relationships of the exon 1a 5'-untransted region -84 bp(C-->G), IVS 5+29 (G-->T), IVS 9+8 (T-->C) and IVS 9+49 (G-->A) variants of GCK gene to the clinical variables such as plasma glucose, insulin, C-peptide and fasting lipid profile.
  
  
  CONCLUSIONS
  The prevalence of structural mutations in glucokinase gene responsible for early-onset diabetes appears to be rare among Chinese patients.
authors.affiliation: Shanghai Diabetes Institute, Department of Endocrinology and Metabolism, Shanghai No.6 People Hospital, Shanghai Jiaotong University, Shanghai, P. R. China.
authors.forename: Tai-shan
authors.initials: TS
authors.lastname: Zheng
authors.forename: Song-hua
authors.initials: SH
authors.lastname: Wu
authors.forename: Zhen
authors.initials: Z
authors.lastname: Yang
authors.forename: Hui-juan
authors.initials: HJ
authors.lastname: Lu
authors.forename: Kun-san
authors.initials: KS
authors.lastname: Xiang
mesh_terms: D000328:Adult; D001483:Base Sequence; D004252:DNA Mutational Analysis; D003924:Diabetes Mellitus, Type 2 / Q000097:blood / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005941:Glucokinase / Q000235:genetics*; D006801:Humans; D008055:Lipids / Q000097:blood; D008297:Male; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction
chemical_list: D008055:Lipids; D005941:Glucokinase