染色体1にある家族性アルツハイマー病の位置
E Levy-Lahad1, E M Wijsman, E Nemens
1Geriatric Research, Education, and Clinical Center (182B), Veterans Affairs Medical Center, Seattle, WA 98108-1597, USA.
Science (New York, N.Y.)
|August 18, 1995
まとめ
研究者らは,染色体1に新しいアルツハイマー病 (AD) 遺伝子局部を特定した. ヴォルガ・ドイツ人の同族のこの発見は,この集団における早期発症アルツハイマー病 (AD) の特定の遺伝的原因を示唆しています.
科学分野:
- 遺伝学 遺伝学とは
- 神経学 神経学とは
- 人間の病気 ヒトの病気
背景:
- アルツハイマー病 (AD) は進行性神経変性障害である.
- 遺伝的要因は,早期発症アルツハイマー病 (AD) の病因において重要な役割を果たします.
- 以前の遺伝学的研究は,ADを特定の染色体領域と関連付けていましたが,新しい位置は特定されていません.
研究 の 目的:
- ヴォルガ・ドイツ人の親族において,自己相性優位性早期発症アルツハイマー病 (AD) の原因となる遺伝的位置を特定する.
- 既知のADロシが排除された家族におけるADの遺伝的基礎を調査する.
主な方法:
- 自体相関分析は,早期発症のADに罹患した7つのヴォルガ・ドイツ系家族で行われました.
- D1S479を含むマイクロサテライトマーカーを使用して,家族メンバーのゲノタイプを決定しました.
- 遺伝的リンクは,21番と14番の既知のADロシ,および新しい領域に評価されました.
主要な成果:
- 21号染色体と14号染色体との結合は排除された.
- アルツハイマー病 (AD) との関連性に関する有意な証拠は,染色体1の周心膜領域,特にマーカーD1S479.9で発見されました.
- D1S479の112塩基対のアレルは7つの家族のうち5つのADと共分離し,共通の創始者効果を示唆しています.
結論:
- 自体主有早期発症アルツハイマー病 (AD) の新たな発症地点が,染色体1q31-42.で特定されました.
- この発見は,アルツハイマー病 (AD) の遺伝的異質性についての洞察を提供します.
- 特定された位置は,研究された集団における早期発症のADに有意な遺伝的貢献者を表す可能性があります.
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