title: [Large germline deletion of the VHL gene in Chinese families with von Hippel-Lindau syndrome].
abstract: OBJECTIVE
  To investigate the large germline deletion of the VHL gene in Chinese families with von Hippel-Lindau disease (VHL).
  
  
  METHODS
  The large deletion of the VHL gene in 20 unrelated Chinese VHL families was analyzed by using universal primer quantitative fluorescent multiplex polymerase chain reaction (UPQFM-PCR) and GeneScan analysis.
  
  
  RESULTS
  Partial and complete VHL gene deletions were detected in 6 probands, including 3 exon 1 deletions, 1 exon 3 and 2 complete deletions. Of the 2 families with the complete deletions, patients developed multi-centric hemangioblastoma in the retina and central nervous system (CNS), and none developed renal cell carcinoma (RCC).
  
  
  CONCLUSIONS
  Partial and complete VHL gene deletions could be detected in Chinese kindreds with von Hippel-Lindau disease and the test for large deletion of the VHL gene should be implemented in routine DNA diagnosis for VHL disease. Further investigations are required to confirm that entire VHL deletions may be associated with a high risk of hemangioblastomas in the retina and central nervous system.
authors.affiliation: Department of Urology, Renji Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200127, PR China.
authors.forename: Jin
authors.initials: J
authors.lastname: Zhang
authors.forename: Hai-ge
authors.initials: HG
authors.lastname: Chen
authors.forename: Wei
authors.initials: W
authors.lastname: Xue
authors.forename: Li-xin
authors.initials: LX
authors.lastname: Zhou
authors.forename: Yi-ran
authors.initials: YR
authors.lastname: Huang
mesh_terms: D044466:Asian People / Q000235:genetics*; D005091:Exons; D005260:Female; D017353:Gene Deletion; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D010375:Pedigree; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics*; D006623:von Hippel-Lindau Disease / Q000235:genetics*
chemical_list: D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human