title: Predominance of the mutation at 1138 of the cDNA for the fibroblast growth factor receptor 3 in Japanese patients with achondroplasia.
abstract: Fibroblast growth factor receptor 3 (FGFR3) has recently been identified as a putative gene for achondroplasia. Since a guanine to adenine mutation at 1138 of the cDNA for FGFR3 had been identified in most of the patients in Western population, we examined 13 Japanese patients to see if they also share the same mutation. Specific endonuclease digestion of the amplified coding sequence for the transmembrane domain of the FGFR3 revealed that the 12 patients have the G to A change at 1138, while the other had the G to C substitution at the same point, both of which result in G380A substitution. As far as we studied, the homogeneity of the point mutation at 1138 is also authentic to Japanese patient as well as Western patients.
authors.affiliation: Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Tonoki
authors.forename: J
authors.initials: J
authors.lastname: Nakae
authors.forename: T
authors.initials: T
authors.lastname: Tajima
authors.forename: N
authors.initials: N
authors.lastname: Shinohara
authors.forename: J
authors.initials: J
authors.lastname: Monji
authors.forename: S
authors.initials: S
authors.lastname: Satoh
authors.forename: K
authors.initials: K
authors.lastname: Fujieda
mesh_terms: D000130:Achondroplasia / Q000235:genetics*; D006801:Humans; D007564:Japan; D017354:Point Mutation / Q000235:genetics*; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*
chemical_list: D017468:Receptors, Fibroblast Growth Factor; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3