title: [Mutational analysis of the vhl gene in the sporadic renal cell carcinoma].
abstract: OBJECTIVE
  To assess and characterize mutations in the vhl gene in tumor tissue samples from 30 patients undergoing surgery for renal cell carcinoma in our department.
  
  
  METHODS
  Descriptive, observational and analytical study of 30 patients undergoing surgery for RCC, analyzing the vhl gene sequence in tumor tissue, and using healthy renal tissue from the same patients as controls. Tissues were processed by DNA extraction, PCR amplification of the three exons that conform the gene, and ulterior automatic sequence analysis of the amplified exons between intronic primers previously designed. The sequence is compared with the corresponding exons included in the GeneBank. Alterations were checked by backwards sequence analysis.
  
  
  RESULTS
  9 mutations (30%) were found in the tumoral samples analyzed. 7 of them were punctual (one of them intronic); the other two were deletions. Mutations were distributed among the three exons: 3 in exon 1, 4 in exon 2, 1 in exon 3 and 1 intronic. One of the samples showed 2 mutations. Control tissue was free of mutations.
  
  
  CONCLUSIONS
  Sporadic RCC shows mutations in the vhl gene which mainly appear in the clear cell subtype. Such alterations result in severe disturbances in the protein, disturbing its tumor suppressing function.
authors.affiliation: Servicio de Urología, Complejo Hospitalario Universitario de Albacete, Albacete, España. gbjosem@sescam.jccm.es
authors.forename: José Miguel
authors.initials: JM
authors.lastname: Giménez Bachs
authors.forename: Antonio
authors.initials: A
authors.lastname: Salinas Sánchez
authors.forename: Juan
authors.initials: J
authors.lastname: Lorenzo Romero
authors.forename: Francisco
authors.initials: F
authors.lastname: Sánchez Sánchez
authors.forename: María José
authors.initials: MJ
authors.lastname: Donate Moreno
authors.forename: Dolores
authors.initials: D
authors.lastname: García Olmo
authors.forename: Julio
authors.initials: J
authors.lastname: Escribano Martínez
authors.forename: Julio
authors.initials: J
authors.lastname: Virseda Rodríguez
mesh_terms: D000328:Adult; D000368:Aged; D002292:Carcinoma, Renal Cell / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D025521:Tumor Suppressor Proteins / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*; D051794:Von Hippel-Lindau Tumor Suppressor Protein
chemical_list: D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human