title: [ATM gene mutations in Chinese patients with ataxia telangiectasia].
abstract: OBJECTIVE
  To investigate the mutation characteristics of ATM gene in Chinese patients with ataxia-telangiectasia (AT).
  
  
  METHODS
  Mutation of ATM gene was screened by polymerase chain reaction, reverse transcription-polymerase chain reaction, polyacrylamide gel electrophoresis combined with DNA direct sequencing in two Chinese AT patients.
  
  
  RESULTS
  A missense mutation of 1346(G>C) in exon 11, which was a homozygotic mutation, was identified in one patient; a nonsense mutation of 610 (G>T) in exon 6 combined with a missense mutation of 6679 (C>T) in exon 47, which was a compound heterozygotic mutation, were identified in the other patient. They were co-segregated with the disease and were localized within the functional domain of ATM gene.
  
  
  CONCLUSIONS
  Totally three novel ATM gene mutations were identified in two Chinese AT patients.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central-South University, Changsha, Hunan, 410008 P. R. China.
authors.forename: Hong
authors.initials: H
authors.lastname: Jiang
authors.forename: Beisha
authors.initials: B
authors.lastname: Tang
authors.forename: Zhengmao
authors.initials: Z
authors.lastname: Hu
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Bo
authors.initials: B
authors.lastname: Xu
authors.forename: Jianguang
authors.initials: J
authors.lastname: Tang
authors.forename: Lu
authors.initials: L
authors.lastname: Shen
mesh_terms: D064007:Ataxia Telangiectasia Mutated Proteins; D001483:Base Sequence; D018797:Cell Cycle Proteins / Q000235:genetics*; D002648:Child; D002681:China; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D020754:Spinocerebellar Ataxias / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D018797:Cell Cycle Proteins; D018389:Codon, Nonsense; D004268:DNA-Binding Proteins; D025521:Tumor Suppressor Proteins; C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins; D017346:Protein Serine-Threonine Kinases