title: [EXT1 and EXT2 mutation identified by denaturing high performance liquid chromatograph in three families with hereditary multiple exostoses].
abstract: OBJECTIVE
  To develop a new denaturing high performance liquid chromatograph (DHPLC)-based method to screen patients with EXT gene mutation and to study the gene mutation in three families with multiple exostoses.
  
  
  METHODS
  All the exons of EXT gene, including the intro-exon boundaries, were amplified by PCR. Linkage analysis and DHPLC screening were carried out to identify the mutations. DNA sequencing was used to confirm the mutations.
  
  
  RESULTS
  Two known splice site mutations, IVS2+1 G to A and IVS7+1 G to T, and two SNPs have been detected in EXT2 or EXT1 gene.
  
  
  CONCLUSIONS
  The transversions of IVS2+1 G to A and IVS7+1 G to T in EXT2 gene are suggested to be the disease-causing mutations and the DHPLC is a high throughout, sensitive, simple, quick, economical method to screen gene mutation in hereditary multiple exostosis.
authors: National Research Institute for Family Planning, Beijing, 100081 PR China.
authors: Meng
authors: M
authors: Zhang
authors: Shi-guo
authors: SG
authors: Liu
authors: Fei-feng
authors: FF
authors: Li
authors: Wan-hao
authors: WH
authors: Zhou
authors: Xiao-hua
authors: XH
authors: Jin
authors: Xu
authors: X
authors: Ma
mesh_terms: D000328:Adult; D002851:Chromatography, High Pressure Liquid / Q000379:methods*; D004252:DNA Mutational Analysis; D004591:Electrophoresis, Polyacrylamide Gel; D005091:Exons / Q000235:genetics; D005097:Exostoses, Multiple Hereditary / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics*; D000099058:Exostosin 1
chemical_list: D017351:N-Acetylglucosaminyltransferases; D000099058:Exostosin 1