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ゴーリン症候群の発達障害は,染色体9の推定腫瘍抑制遺伝子に関連している
M R Gailani1, S J Bale, D J Leffell
1Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510.
Cell
|April 3, 1992
まとめ
ガンの予備性障害であるゴーリン症候群は,染色体9q31.1と関連しています. この領域における突然変異は,
科学分野:
- 遺伝学 遺伝学とは
- 腫瘍学 腫瘍学
- 発達生物学 発達生物学とは
背景:
- ゴーリン症候群は,自己相性支配的疾患である.
- 基礎細胞癌,卵巣線維腫,髄膜芽細胞腫に個人を誘発する.
- この症候群は,広範な発達障害によって特徴づけられ,他の遺伝性がん疾患と区別される.
研究 の 目的:
- ゴーリン症候群が,腫瘍抑制遺伝子の変異によって引き起こされるかどうかを調査する.
- 症候群に関連した特定の染色体領域を特定するために.
主な方法:
- 散発性および遺伝性腫瘍におけるヘテロジゴシティの喪失を探した.
- ゴーリン症候群の親類で遺伝的リンク研究を行った.
主要な成果:
- 11例の散発性基礎細胞癌と3例の遺伝性腫瘍では,染色体9q31.1.のアレル喪失が示された.
- すべての知的な親類は,ゴーリン症候群の遺伝子と,染色体9q31.3にあるマーカーの間の密接な関連性を示した.
- ヘテロジゴシティの喪失は,腫瘍抑制遺伝子のホモジゴス無活性化を暗示する.
結論:
- ゴーリン症候群の原因となる遺伝子は,染色体9q31に位置し,腫瘍抑制剤として機能する.
- この遺伝子のホモジゴス無活性化により,腫瘍が発症する.
- ヘミジゴスの生殖系変異により,複数の先天性異常が生じます.
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