title: [Contribution of MODY2 gene to the pathogenesis of Chinese early onset familial type 2 diabetes].
abstract: OBJECTIVE
  To assess the prevalences of maturity onset diabetes of the young 2 (MODY2) in Chinese early onset familial type 2 diabetic population and explore the possibility of some common DNA variants of MODY2 gene to contribute to the susceptibility of type 2 diabetes in Chinese population.
  
  
  METHODS
  A total of 100 early onset type 2 diabetes pedigrees in Beijing were collected. By PCR, all the exons and exon/intron splice sites of MODY2 gene were amplified, and PCR products were sequenced to identify the DNA variants . The SNPs were genotyped by homogenous mass extend (hME) assay in nonjdiabetic control population.
  
  
  RESULTS
  Three DNA vatiants in MODY2 gene were identified: one in exon4(ccc-->ccg, heterozygous silent mutation,pro145pro), one in exon7(gcc-->gcg, heterozygous silent mutation, ala233ala), and one in intron 9 (IVS9+8 C>T). The prevalences of these variant alleles were 0.5 in exon 4, 0.5% in exon 7 and 36% in intron 9. An association study was conducted to examine the relationship between the IVS9+8 C>T polymorphism and early onset familial type 2 diabetes, the frequency of allele T of early onset familial type 2 diabetes population was significantly lower, and the frequency of allele C significantly higher, than those of control subjects (P<0.05).
  
  
  CONCLUSIONS
  Our research suggested in Chinese population the prevalences of MODY2 was less than 1% in early onset familial type 2 diabetic patients, the IVS9+8 C>T polymorphism at MODY2 gene, intron 9 or nearby genes was associated with early onset familial type 2 diabetes .
authors.affiliation: Diabetes Center of Peking University, Department of Endocrinology and Metabolism, Peking University People's Hospital, Beijing 100044, China.
authors.forename: Xue-yao
authors.initials: XY
authors.lastname: Han
authors.forename: Li-nong
authors.initials: LN
authors.lastname: Ji
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D001794:Blood Pressure; D002681:China; D002784:Cholesterol / Q000097:blood; D008076:Cholesterol, HDL / Q000097:blood; D003924:Diabetes Mellitus, Type 2 / Q000097:blood / Q000208:ethnology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D005941:Glucokinase / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D014280:Triglycerides / Q000097:blood
chemical_list: D008076:Cholesterol, HDL; D014280:Triglycerides; D002784:Cholesterol; D005941:Glucokinase