title: [Mutation analysis of the RUNX2 gene in a family with cleidocranial dysplasia].
abstract: OBJECTIVE
  To analyze the mutations of the RUNX2 gene in a family with cleidocranial dysplasia (CCD).
  
  
  METHODS
  The general health status of family members with CCD was investigated through propositus verification method. Oral specialized examination and radiological examination were performed. The peripheral venous blood of the proband and her parents and sisters was collected. Genomic DNA was extracted, and the RUNX2 gene from this DNA was amplified by polymerase chain reaction (PCR). DNA sequences were analyzed with the Blastn program.
  
  
  RESULTS
  After Blastn analysis, heterozygous C to T transition mutation at nucleotide 568 occurred in exon 2, which converted arginine to tryptophane at codon 190 (c.568C>T, CGG-->TGG).
  
  
  CONCLUSIONS
  RUNX2 gene is responsible for the CCD in the Chinese family under study. The c.568C>T mutation is the molecular basis of the CCD in the family.
authors.affiliation: General Department, Jinan Stomatological Hospital, Jinan 250001, China.
authors.forename: Tao
authors.initials: T
authors.lastname: Jiang
authors.forename: Xu
authors.initials: X
authors.lastname: Jiang
authors.forename: Yunkui
authors.initials: Y
authors.lastname: Zhang
mesh_terms: D044466:Asian People; D001483:Base Sequence; D002973:Cleidocranial Dysplasia / Q000235:genetics*; D050659:Core Binding Factor Alpha 1 Subunit / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D006801:Humans; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction
chemical_list: D050659:Core Binding Factor Alpha 1 Subunit; C493709:RUNX2 protein, human