title: Genotyping of the G1138A mutation of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis.
abstract: OBJECTIVE
  The fibroblast growth factor receptor 3 gene (FGFR3) plays a critical role in cartilage growth-plate differentiation and bony development. It has been shown that 97% of patients with achondroplasia have a G to A transition mutation at position 1138 (c.1138 G>A) of codon 380 of the FGFR3 gene.
  
  
  METHODS
  Exon 8 of the FGFR3 gene was analyzed in 40 patients with achondroplasia, as well as in 50 control individuals for the presence of the c.1138G>A variant using melting curve analysis with a high-resolution melting instrument (HR-1).
  
  
  RESULTS
  The high-resolution melting curve analysis successfully genotyped the c.1138G>A mutation in exon 8 of the FGFR3 gene in all 40 patients with achondroplasia without the need of further assays. The technique had a sensitivity and specificity of 100%.
  
  
  CONCLUSIONS
  High-resolution melting analysis is a simple, rapid, and sensitive one tube assay for genotyping the FGFR3 gene. The technique is a low cost high-throughput FGFR3 screening assay.
authors.affiliation: Institute of Biomedical Engineering, College of Medicine and College of Engineering, National Taiwan University, Taipei, Taiwan.
authors.forename: Chia-Cheng
authors.initials: CC
authors.lastname: Hung
authors.forename: Chien-Nan
authors.initials: CN
authors.lastname: Lee
authors.forename: Chien-Hui
authors.initials: CH
authors.lastname: Chang
authors.forename: Yuh-Jyh
authors.initials: YJ
authors.lastname: Jong
authors.forename: Chih-Ping
authors.initials: CP
authors.lastname: Chen
authors.forename: Wu-Shiun
authors.initials: WS
authors.lastname: Hsieh
authors.forename: Yi-Ning
authors.initials: YN
authors.lastname: Su
authors.forename: Win-Li
authors.initials: WL
authors.lastname: Lin
mesh_terms: D000130:Achondroplasia / Q000235:genetics*; D002356:Cartilage / Q000254:growth & development; D002851:Chromatography, High Pressure Liquid / Q000379:methods*; D004252:DNA Mutational Analysis; D051518:Fibroblast Growth Factor 3 / Q000235:genetics; D020180:Heteroduplex Analysis / Q000379:methods; D006801:Humans; D009691:Nucleic Acid Denaturation / Q000235:genetics; D017354:Point Mutation / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics*; D012680:Sensitivity and Specificity; D013624:Taiwan; D044366:Transition Temperature
chemical_list: D051518:Fibroblast Growth Factor 3; D051498:Receptor, Fibroblast Growth Factor, Type 3