title: [Scanning the HNF4A gene mutation from Chinese pedigrees with early- and/or multiple-onset diabetes].
abstract: OBJECTIVE
  To screen the mutation of hepatocyte nuclear factor 4 alpha gene (HNF4A) in Chinese pedigrees with early and/or multiplex-onset diabetes in Shanghai and nearby area.
  
  
  METHODS
  By PCR-single strand conformation polymorphism (PCR-SSCP) and direct sequencing, the mutation screen of HNF4A gene was performed in 93 normal controls and 154 unrelated probands from early- and/or multiplex-onset diabetes. The PCR-RFLP was used to analyze the frequencies of the discovered mutations and variants.
  
  
  RESULTS
  Two synonymous mutations (N153N, A158A) were found in two families, of which the N153N was co-segregated with early-onset diabetes. These two synonymous mutations were not detected in the 93 normal controls. Three variants, IVS1+308(A to G)(rs2071197), IVS1+357(A to T)(rs2071198), IVS1-5(C to T)(rs745975), were also identified in this study. The genotype and allele frequencies of the three variants had no difference between the probands and normal controls.
  
  
  CONCLUSIONS
  HNF4A gene mutation is rare in Chinese pedigrees with early and/or multiplex-onset diabetes.
authors.affiliation: Shanghai Diabetes Institute, Department of Endocrinology and Metabolism, Shanghai Jiaotong University Affiliated No. 6 People's Hospital, Shanghai Diabetes Clinical Center, Shanghai 200233, P. R. China.
authors.forename: Rong
authors.initials: R
authors.lastname: Zhang
authors.forename: Cheng
authors.initials: C
authors.lastname: Hu
authors.forename: Cong-rong
authors.initials: CR
authors.lastname: Wang
authors.forename: Qi-chen
authors.initials: QC
authors.lastname: Fang
authors.forename: Xiao-jing
authors.initials: XJ
authors.lastname: Ma
authors.forename: Wei-ping
authors.initials: WP
authors.lastname: Jia
authors.forename: Kun-san
authors.initials: KS
authors.lastname: Xiang
mesh_terms: D000328:Adult; D017668:Age of Onset; D001483:Base Sequence; D002681:China / Q000453:epidemiology; D003920:Diabetes Mellitus / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D051557:Hepatocyte Nuclear Factor 4 / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA
chemical_list: D051557:Hepatocyte Nuclear Factor 4