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お問い合わせ

さらなる解析を進める

リピート領域など増幅が難しいゲノム領域におけるターゲット濃縮が、CRISPR/Cas9システムを用いた増幅フリーの手法で可能になりました。

リピート病を解明

リピート病における多くの疾患原因遺伝子はこれまでに特定されていますが、詳細な疾患メカニズムはまだ理解されていません。これらのリピート反復領域は数キロベースにわたっており、一般的に使用される技術では1塩基の解像度で解析することが困難です。PacBioのロングリードSMRTシークエンスとCRISPR/Cas9を組み合わせることで、増幅フリーのターゲット濃縮法を利用でき、研究者は下記の解析が可能になります。

  • PCRバイアスとエラーを除去
  • 1塩基の解像度でリピート伸長領域をシークエンス
  • 正常および変異伸長アリルのリピート数をカウント
  • リピートとは異なる分断配列の同定
  • 体細胞モザイクの特徴づけ

ワークフロー:DNAから1塩基解像度でリピート伸長を特徴づけ

  ライブラリー調製

  • 標準SMRTbellライブラリーを調製
  • ターゲットの濃縮
    • SMRTbellテンプレートをターゲット特異的なCRISPR/Cas9ヌクレアーゼで消化
    • キャプチャーアダプターを付加
    • 興味のある領域を含むテンプレートをプルダウン
SequelシステムでSMRTシークエンス

  • 比類ないロングリードを達成:半分以上のリードが20 kb以上
  • マッピングおよびシステムエラーを避け、99.999%以上のコンセンサス精度を達成
  • サンプル遺伝子座あたり最低50分子のカバレッジをターゲット

 

  データ解析

  • 各オンターゲット分子のコンセンサス配列を産出
  • 各アリルごとに平均リピート配列内容をde novoで構築
  • 分断配列を含むリピート数の分散を産出
  • リピート種類、数、場所をアリルごとに視覚化

アプリケーションブローシャー(日本語)も合わせてご覧ください。

スポットライト:増幅フリーのターゲットシークエンスで運動失調症をさらに解明

リピート伸長の遺伝構成を調べるで、研究者はパーキンソン病とATXN10遺伝子の新たな表現型/遺伝型の関与を解明しました。研究の詳細はこちらのブログをお読みください

増幅フリーのターゲットシークエンスについてご興味をお持ちの場合は、こちらの特設ページから情報のアップデートおよびアーリーアクセスへ応募いただけます。