title: [Denaturant gradient gel electrophoresis in the genetic diagnosis of hereditary multiple exostoses].
abstract: OBJECTIVE
  To detect the mutations of EXT2 gene in hereditary multiple exostoses (HME) families and to investigate the sensitivity of denaturant gradient gel electrophoresis (DGGE) in screening the mutations in EXT2 gene.
  
  
  METHODS
  Five HME families and 3 sporadic patients were screened for the mutation detection in all exons of EXT2 gene covering the coding sequence and the flanking intronic sequence by DGGE, and DNA sequencing was performed for products with abnormal conformation.
  
  
  RESULTS
  Among these HME patients, we found 2 disease-causing mutations: A313T (nonsense mutation) and 319 insGT (frameshift mutation).
  
  
  CONCLUSIONS
  Two mutations of EXT2 gene are identified in the sample. DGGE can be an ideal choice for gene diagnoses of HME.
authors.affiliation: Department of Orthopaedics, Xiangya Hospital, Central South University, Changsha, China. hehongbo@cnlmg.com
authors.forename: Hong-Bo
authors.initials: HB
authors.lastname: He
authors.forename: Zheng-Mao
authors.initials: ZM
authors.lastname: Hu
authors.forename: He-Jun
authors.initials: HJ
authors.lastname: Li
authors.forename: Yong
authors.initials: Y
authors.lastname: Zhu
authors.forename: Xiao-Liu
authors.initials: XL
authors.lastname: Shi
authors.forename: Guang-Hua
authors.initials: GH
authors.lastname: Lei
authors.forename: Jiang-Nan
authors.initials: JN
authors.lastname: Zhou
authors.forename: Kang-Hua
authors.initials: KH
authors.lastname: Li
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D004591:Electrophoresis, Polyacrylamide Gel / Q000379:methods*; D005091:Exons; D005097:Exostoses, Multiple Hereditary / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D016147:Genes, Tumor Suppressor; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics*; D000099065:Exostosin 2; D000099058:Exostosin 1
chemical_list: D017351:N-Acetylglucosaminyltransferases; D000099058:Exostosin 1; D000099065:Exostosin 2