title: [Mutation analysis of fibroblast growth factor receptor 3 gene in an achondroplasia family].
abstract: OBJECTIVE
  To clarify the patients' pathogenic mechanism in an achondroplasia family not according with the genetic law of autosomal dominant inheritance disease at gene level.
  
  
  METHODS
  Genomic DNA from peripheral blood of all members in this family was used for amplification of the exon 10 of fibroblast growth factor receptor 3(FGFR3) gene by PCR; mutation was detected by DNA sequencing and identified by restriction endonuclease MaeIII.
  
  
  RESULTS
  A new mutation of A to T at nucleotide 1180 was found in patients but not in unaffected members.
  
  
  CONCLUSIONS
  Combined with pedigree analysis, it was summarized that achondroplasia patients in this family might result from this new mutation.
authors.affiliation: Division of Medical Genetics, Suzhou University, Suzhou, Jiangsu, 215007 PR China. zhubin63@163.com
authors.forename: Bin
authors.initials: B
authors.lastname: Zhu
authors.forename: Qiu-ming
authors.initials: QM
authors.lastname: Dong
authors.forename: Xing-hua
authors.initials: XH
authors.lastname: Huang
authors.forename: Guo-qing
authors.initials: GQ
authors.lastname: Ji
authors.forename: Ying
authors.initials: Y
authors.lastname: Chen
authors.forename: Wen-xing
authors.initials: WX
authors.lastname: Wang
authors.forename: Hai-yan
authors.initials: HY
authors.lastname: Jiang
authors.forename: Jin-sheng
authors.initials: JS
authors.lastname: Gao
mesh_terms: D000130:Achondroplasia / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; 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; D004247:DNA; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3