title: [Results of mutation analyses of von Hippel-Lindau disease gene in Japanese patients: comparison with results in United States and United Kingdom].
abstract: Recently the gene responsible for the von Hippel-Lindau (VHL) disease was identified as a tumor suppressor gene. Our ongoing studies on the mutation of the VHL gene in Japanese 28 VHL families with single strand conformational analyses of DNA and Southern blot analyses revealed 6 cases of insertion or deletion, 1 cases of splice site mutation and 9 cases of missense mutation, and 3 possible intragenic deletions. Our analytical findings are essentially similar to those observed in the western countries. The VHL families associated with pheochromocytoma had the same mutational hot spot as those in the western countries. Molecular analyses of the VHL gene in the Japanese VHL disease substantially improved the understanding of this disease and its inheritance character.
mesh_terms: D015139:Blotting, Southern; D004252:DNA Mutational Analysis; D017353:Gene Deletion; D016147:Genes, Tumor Suppressor / Q000235:genetics*; D006801:Humans; D007564:Japan; D009154:Mutation; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D006113:United Kingdom; D014481:United States; D006623:von Hippel-Lindau Disease / Q000235:genetics*