title: [Germ line mutations in Chinese kindreds with von Hippel-Lindau syndrome].
abstract: OBJECTIVE
  To investigate the germ line mutations in Chinese kindreds with von Hippel-Lindau syndrome (VHL) and to explore its role in clinical management.
  
  
  METHODS
  The clinical and familial data were reviewed from 6 Chinese kindreds with VHL, of which the VHL germ line mutation in 21 members was analysed by polymerase chain reaction and sequencing analysis.
  
  
  RESULTS
  Among 6 kindreds, there were 5 type I and 1 type IIA. The germ line mutations consisted of 4 missense mutations, 1 nonsense mutation and 1 deletion, of which 4 mutations existed in exon 1, 1 in exon 2 and 1 in exon 3. Of the 21 members who volunteered for genetic analysis, 14 members presented the VHL germ line mutations, including 10 affected patients, 1 suspected patients and 3 carriers.
  
  
  CONCLUSIONS
  The germ line mutations in Chinese kindreds with VHL could be dominant in exon 1. It plays an important role in early detection of asymptomatic patients and the carriers, in the diagnosis of VHL and the clinical screening for members in the VHL families.
authors.affiliation: Department of Urology, Renji Hospital, Medical College, Shanghai Jiaotong University, Shanghai, 200127 PR China.
authors.forename: Jin
authors.initials: J
authors.lastname: Zhang
authors.forename: Yi-ran
authors.initials: YR
authors.lastname: Huang
authors.forename: Jia-hua
authors.initials: JH
authors.lastname: Pan
authors.forename: Dong-ming
authors.initials: DM
authors.lastname: Liu
authors.forename: Li-xin
authors.initials: LX
authors.lastname: Zhou
authors.forename: Wei
authors.initials: W
authors.lastname: Xue
authors.forename: Qi
authors.initials: Q
authors.lastname: Chen
mesh_terms: D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002681:China; D018389:Codon, Nonsense / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005192:Family Health; D005260:Female; D017353:Gene Deletion; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics*; D006623:von Hippel-Lindau Disease / Q000208:ethnology / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human