title: A novel mutation in the hepatocyte nuclear factor-1alpha/MODY3 gene in Chinese subjects with early-onset Type 2 diabetes mellitus in Taiwan.
abstract: OBJECTIVE
  The goal of this study was to determine the frequency of mutation in hepatic nuclear factor (HNF)-1alpha, a gene recently implicated as causing maturity-onset diabetes of the young (MODY) and to analyse the respective clinical presentations in an ethnically Chinese population.
  
  
  METHODS
  Fifteen unrelated subjects (nine females and six males) aged less than 35 years who had early-onset diabetes were analysed to test the possibility that mutation of the HNF-1alpha gene was responsible for this disorder. Genomic DNA extraction, polymerase chain reaction and DNA sequence analysis were performed accordingly.
  
  
  RESULTS
  One patient with MODY had a novel missense mutation in exon 3 of the HNF-1alpha gene (Y218C) in a region of the protein that corresponds to a predicted DNA binding domain.
  
  
  CONCLUSIONS
  A Y218C mutation in HNF-1alpha gene was identified in one family in Taiwan.
authors.affiliation: Department of Pathology and Laboratory Medicine, Veterans General Hospital-Taipei, National Yang-Ming University, Taiwan, ROC. tsjap@vghtpe.gov.tw
authors.forename: T S
authors.initials: TS
authors.lastname: Jap
authors.forename: Y C
authors.initials: YC
authors.lastname: Wu
authors.forename: J Y
authors.initials: JY
authors.lastname: Chiou
authors.forename: C F
authors.initials: CF
authors.lastname: Kwok
mesh_terms: D000293:Adolescent; D000328:Adult; D001665:Binding Sites; D004247:DNA / Q000378:metabolism; D004268:DNA-Binding Proteins; D003924:Diabetes Mellitus, Type 2 / Q000175:diagnosis / Q000235:genetics*; D005091:Exons; D005260:Female; D005787:Gene Frequency; D051537:Hepatocyte Nuclear Factor 1; D051538:Hepatocyte Nuclear Factor 1-alpha; D051539:Hepatocyte Nuclear Factor 1-beta; D006801:Humans; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D009687:Nuclear Proteins; D010375:Pedigree; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D013624:Taiwan; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C496487:HNF1A protein, human; C496495:HNF1B protein, human; D051538:Hepatocyte Nuclear Factor 1-alpha; D009687:Nuclear Proteins; D014157:Transcription Factors; D051537:Hepatocyte Nuclear Factor 1; D051539:Hepatocyte Nuclear Factor 1-beta; D004247:DNA