本邦におけるvon Hippel-Lindau(VHL)病患者における原因遺伝子異常の概要 : 欧米のVHL病との比較

Abstract

進行中の日本国内におけるvon Hippel Lindau病患者の原因遺伝子(VHL遺伝子)の異常の解析について説明し, 併せて世界のVHL病の遺伝子異常の結果と病態との関係について考察を加えた.われわれは28家系中19家系(68%)に遺伝子異常か, サザンブロット解析による異常を認めている.その遺伝子異常はアメリカ, イギリスにおける結果と類似する傾向が認められた

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.