title: [Achondroplasia: molecular study of 28 patients].
abstract: BACKGROUND
  The main goal of the study is to investigate in the Spanish population the value of searching for the Gly380Arg mutation in the transmembrane domain of fibroblast growth factor receptor-3 (FGFR3#) as the basis for the molecular diagnosis of achondroplasia.
  
  
  METHODS
  Twenty eight achondroplastic patients were studied. Genomic DNA obtained from blood was used to amplify using PCR a 164 bp segment of FGFR3 encompassing the transmembrane domain. The occurrence of the G-->A transition and of the G-->C transversion at the first base of codon 380 were investigated by digestion with the restriction enzymes Sfcl and Mspl followed by electrophoretic analysis of the products.
  
  
  RESULTS
  All achondroplastic patients were found to be heterozygous for the Gly380Arg mutation, as a consequence of the G-->A transition in 27 cases and of the G-->C transversion in the remaining patient. None of these changes were found in control subjects including a hypochondroplastic patient.
  
  
  CONCLUSIONS
  The identification of the Gly380Arg mutation can be used in Spain for conclusive diagnosis of achondroplasia. The guanine at the first position of codon 380 of FGFR3 exhibits similarly increased frequency of mutation than in other populations, an thus it is unlikely that the genetic background of the population determines the mutation potential of this guanine.
authors.affiliation: Instituto de Investigaciones Citológicas (FVIB y CSIC), Valencia.
authors.forename: C
authors.initials: C
authors.lastname: Climent
authors.forename: I
authors.initials: I
authors.lastname: Lorda-Sánchez
authors.forename: M
authors.initials: M
authors.lastname: Urioste
authors.forename: J M
authors.initials: JM
authors.lastname: Gairi
authors.forename: J I
authors.initials: JI
authors.lastname: Rodríguez
authors.forename: V
authors.initials: V
authors.lastname: Rubio
mesh_terms: D000130:Achondroplasia / Q000235:genetics*; D004252:DNA Mutational Analysis; D051518:Fibroblast Growth Factor 3; D005346:Fibroblast Growth Factors / Q000235:genetics*; D006147:Guanine; D006801:Humans; D009154:Mutation; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D013030:Spain
chemical_list: C496444:FGF3 protein, human; D051518:Fibroblast Growth Factor 3; D011518:Proto-Oncogene Proteins; D017468:Receptors, Fibroblast Growth Factor; D006147:Guanine; D005346:Fibroblast Growth Factors
vernacular_title: Acondroplasia: estudio molecular de 28 pacientes.