Xq28におけるヒトの視覚性染色体遺伝子のタンデム配列である
D Vollrath1, J Nathans, R W Davis
1Department of Biochemistry, Stanford University School of Medicine, CA 94305.
Science (New York, N.Y.)
|June 17, 1988
まとめ
不平等なクロスオーバーによって引き起こされる赤と緑の視覚染色体遺伝子の遺伝的変異は,色盲に共通する遺伝子数と融合遺伝子の違いを説明します. この研究は,この遺伝モデルを支持する物理的な証拠を提供します.
科学分野:
- 遺伝学 遺伝学とは
- 分子生物学は分子生物学である.
- オフタルモロジック (眼科)
背景:
- 赤と緑の視覚色素の遺伝子数値の変動と融合遺伝子の存在は,色盲に関連しています.
- タンデム遺伝子配列内の不平等なクロスオーバーは,これらの遺伝的変異のための提案されたメカニズムです.
研究 の 目的:
- 赤い色と緑色の視覚的色素の遺伝子位置の構造を物理的にマッピングする.
- タンデム配列における不均等なクロスオーバーが遺伝子数変異と融合遺伝子形成を説明するという仮説を検証する.
主な方法:
- 赤い色素と緑色の色素の遺伝子位置の構造を調査するために,長距離物理マッピング技術を使用しました.
- 異なる遺伝子番号を持つ個体における遺伝子配列の制限マップを生成した.
主要な成果:
- 赤い色素と緑色の色素遺伝子は,約39キロ塩基の繰り返し長さを持つタンデム配列を形成する.
- 配列の5'端にある赤色染色体遺伝子の位置は,その安定したコピー番号と相関する.
- 制限マップは,ヘッド・トゥ・テール遺伝子構成が確認され,異なる遺伝子数を持つ個体間で一貫している.
結論:
- 赤緑色視覚染色体遺伝子配列変異の不均等なクロスオーバーモデルを支持する物理的証拠を提供します.
- 緑色染色体の遺伝子複製数の変動と赤緑色融合遺伝子の流行の遺伝的根拠を説明します.
- 人口における赤緑色盲の高い発生率についての洞察を提供します.
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