title: [Analysis of two single nucleotide polymorphisms in von Hippel-Lindau gene and detection of loss of heterozygosity in Chinese sporadic renal cell carcinoma].
abstract: OBJECTIVE
  To exam two single nucleotide polymorphism(SNP) in VHL gene and intragenic loss of heterozygosity (LOH) of VHL gene in 79 Chinese sporadic renal cell carcinomas(RCCs), and to analyze the relationships between VHL LOH and clinicopathological parameters.
  
  
  METHODS
  The authors extracted tumor and normal tissue DNA and detected two genotypes of intragenic SNP sites, rs779805 in the 5'terminal and rs 1642742 in the 3'terminal of VHL gene by polymerase chain reaction-restriction frament length polymorphism, then analyzed VHL LOH by comparing tumor tissue versus normal tissue in heterozygosities. Subsequently the relationships between VHL LOH and clinicopathological parameters of RCCs were analyzed.
  
  
  RESULTS
  The computed heritage parameters of two SNPs, included genotype frequency, allele frequency, heterozygosity, and polymorphism information content. Twenty-nine heterozygosities were detected in 79 RCCs. LOH was found in 41.4%(12/29) of RCCs. No significant relationships between VHL LOH and age, sex, tumor stage, pathological grade were found.
  
  
  CONCLUSIONS
  LOH of VHL gene is an important genetic event in Chinese sporadic renal carcinoma, and the LOH frequency is 41.4%. VHL LOH has no influence on stage and grade of RCC.
authors.affiliation: Urology Research Institute of Peking University, First Hospital, Peking University, Beijing, 100034 PR China. liuliuningning@sina.com
authors.forename: Ning
authors.initials: N
authors.lastname: Liu
authors.forename: Kan
authors.initials: K
authors.lastname: Gong
authors.forename: Xi
authors.initials: X
authors.lastname: Na
authors.forename: Guan
authors.initials: G
authors.lastname: Wu
authors.forename: Yan-qun
authors.initials: YQ
authors.lastname: Na
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics; D002292:Carcinoma, Renal Cell / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008113:Liver Neoplasms / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D019656:Loss of Heterozygosity; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics*; D055815:Young Adult
chemical_list: D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human