title: [Diagnosing achondroplasia by single cell nested-PCR].
abstract: OBJECTIVE
  To research on the reliability of diagnosing achondroplasia (ACH) on single cell level and to provide a basis for preimplantation genetic diagnosis(PGD).
  
  
  METHODS
  The high-frequency mutation region G380R of fibroblast growth factor receptor 3(FGFR3) gene was amplified by nested-PCR with single lymphocyte and single blastomere. The products of PCR were digested by restriction enzyme Bfm I, then the digested products were detected by 10% polyacrylamida gel electrophoresis(PAGE).
  
  
  RESULTS
  The amplification success rate, allele dropout rate and correct diagnosis rate of single lymphocyte's PCR were 90.4%, 8.2% and 91.8%,respectively. The amplification success rate of single blastomere was 75.4%.
  
  
  CONCLUSIONS
  The diagnosis of ACH by single cell nested-PCR is comparatively stable and reliable.
authors.affiliation: Institute of Reproduction and Stem Cell Engineering, Reproductive and Genetic Hospital of CITIC-XIANGYA: Central South University, Changsha, Hunan, 410078 PR China.
authors.forename: Chang-gao
authors.initials: CG
authors.lastname: Zhong
authors.forename: Lu-yun
authors.initials: LY
authors.lastname: Li
authors.forename: Chang-fu
authors.initials: CF
authors.lastname: Lu
authors.forename: Ge
authors.initials: G
authors.lastname: Lin
authors.forename: Jun-jiang
authors.initials: JJ
authors.lastname: Fu
authors.forename: Ke-li
authors.initials: KL
authors.lastname: Luo
authors.forename: Guang-xiu
authors.initials: GX
authors.lastname: Lu
mesh_terms: D000130:Achondroplasia / Q000175:diagnosis* / Q000235:genetics; D004252:DNA Mutational Analysis; D006801:Humans; D025202:Molecular Diagnostic Techniques / Q000379:methods*; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods*; D019836:Preimplantation Diagnosis; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics*; D012680:Sensitivity and Specificity
chemical_list: C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3