title: [Identification of a novel glucokinase-E339K mutation in a Chinese maturity onset diabetes of the young 2 pedigree].
abstract: OBJECTIVE
  To identify the related gene for a typical maturity onset diabetes of the young 2 (MODY2) pedigree.
  
  
  METHODS
  The genomic DNA of all the members of the pedigree was extracted and then PCR amplification on 5', 3' untranslated region and exon 1 - 10 of glucokinase (GCK) gene was carried out. Sequencing in both directions was performed to identify mutation on GCK gene.
  
  
  RESULTS
  A novel GCK-E339K mutation which was cosegregated with diabetes/impaired glucose tolerance was identified.
  
  
  CONCLUSIONS
  The novel GCK-E339K mutation might be linked to this MODY2 pedigree.
authors.affiliation: Department of Endocrinology, The Third Affiliated Hospital, Sun Yat-sen University, Diabetes Research Centre of Guangdong Province, Guangzhou 510630, China.
authors.forename: Meng-yin
authors.initials: MY
authors.lastname: Cai
authors.forename: Hua
authors.initials: H
authors.lastname: Liang
authors.forename: Yun-feng
authors.initials: YF
authors.lastname: Shen
authors.forename: Yan
authors.initials: Y
authors.lastname: Bi
authors.forename: Jin-hua
authors.initials: JH
authors.lastname: Yan
authors.forename: Fen
authors.initials: F
authors.lastname: Xu
authors.forename: Jian-ping
authors.initials: JP
authors.lastname: Weng
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D001786:Blood Glucose; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005091:Exons; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005941:Glucokinase / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010375:Pedigree
chemical_list: D001786:Blood Glucose; D005941:Glucokinase