title: [Mutation analysis of a Chinese family with inherited long QT syndrome].
abstract: OBJECTIVE
  To identify the mutation of a Chinese family with inherited long QT syndrome(LQTS).
  
  
  METHODS
  The disease-causing gene was tentatively determined in light of the clinical manifestations and electrophysiological properties, and then polymerase chain reaction and DNA sequencing were used for screening and identifying mutation.
  
  
  RESULTS
  A missense mutation G940A(G314S) in the KCNQ1 gene was identified, which was the 'hot spot' of long QT syndrome mutation.
  
  
  CONCLUSIONS
  The mutation that is involved with long QT syndrome in Chinese patients is the same as that in the European, American and Japanese patients.
authors.affiliation: Department of Cardiology, Cardiovascular Disease Institute, Union Hospital of Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, 430022 PR China.
authors.forename: Rong
authors.initials: R
authors.lastname: Du
authors.forename: Jun-guo
authors.initials: JG
authors.lastname: Yang
authors.forename: Wei
authors.initials: W
authors.lastname: Li
authors.forename: Le
authors.initials: L
authors.lastname: Gui
authors.forename: Guo-hui
authors.initials: GH
authors.lastname: Yuan
authors.forename: Cai-lian
authors.initials: CL
authors.lastname: Kang
authors.forename: Fa-xin
authors.initials: FX
authors.lastname: Ren
authors.forename: Shou-yan
authors.initials: SY
authors.lastname: Zhang
mesh_terms: D002681:China; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D051657:KCNQ1 Potassium Channel / Q000235:genetics*; D008133:Long QT Syndrome / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D016133:Polymerase Chain Reaction
chemical_list: D051657:KCNQ1 Potassium Channel