{"created":"2023-05-15T14:45:56.293087+00:00","id":62756,"links":{},"metadata":{"_buckets":{"deposit":"95d69cae-c334-4ae9-b6d9-55a935ffd2cf"},"_deposit":{"created_by":1,"id":"62756","owners":[1],"pid":{"revision_id":0,"type":"depid","value":"62756"},"status":"published"},"_oai":{"id":"oai:repo.qst.go.jp:00062756","sets":["10:29"]},"author_link":["619789","619774","619777","619771","619776","619779","619778","619780","619786","619790","619788","619772","619785","619782","619787","619775","619781","619783","619784","619773"],"item_10005_date_7":{"attribute_name":"発表年月日","attribute_value_mlt":[{"subitem_date_issued_datetime":"2007-09-15","subitem_date_issued_type":"Issued"}]},"item_10005_description_5":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"SNPやマイクロサテライト等の多型マーカーを用いた相関解析において、単独の多型マーカーによる相関よりもその近傍を含む複数マーカーから成るハプロタイプの方がより強い相関を示す例が報告されている。特に、着目している多型マーカーが機能的影響を有さず連鎖マーカーである場合には顕著である。しかしながら、ヒトのような２倍体生物では相同染色体を実験的に区別することが難しく、特に20kb以上の距離に渡るハプロタイプを対象とする場合には、個々の多型マーカーのデータから統計学的に推定せざるをえない。またこのような場合、臨床的に有用なハプロタイプが予想されても、それを患者個々の診断に利用することはできない。したがって本研究では20kb以上のハプロタイプ決定法の開発を目的とした。私達は、Phi29 DNAポリメラーゼがアガロースゲル内に保持したDNAを鋳型としても、溶液中と同様に鎖置換型全ゲノム増幅反応を行えることを見出し、アガロースゲル中で相同染色体DNAを互いに分離することを試みた。まず、細胞をアガロースゲルと混合し、ゲノムDNAの抽出および相同染色体同士が混在しない濃度への限界希釈を行った。この希釈液を分注後冷却してアガロースを固化し、その後Phi29 DNAポリメラーゼを加えて最大１０万倍程度の増幅を行い、得られた増幅産物を加熱によりゲルから溶液中に回収し、タイピングに用いた。モデルとしてヒト１１番染色体のATM遺伝子領域を標的に解析したところ、240kbに渡る７種類のSNPにより構成されるハプロタイプを決定することができたのでこれらの結果について報告する。","subitem_description_type":"Abstract"}]},"item_10005_description_6":{"attribute_name":"会議概要（会議名, 開催地, 会期, 主催者等）","attribute_value_mlt":[{"subitem_description":"日本人類遺伝学会第52回大会","subitem_description_type":"Other"}]},"item_access_right":{"attribute_name":"アクセス権","attribute_value_mlt":[{"subitem_access_right":"metadata only access","subitem_access_right_uri":"http://purl.org/coar/access_right/c_14cb"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"道川, 祐市"}],"nameIdentifiers":[{"nameIdentifier":"619771","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"菅原, 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高志"}],"nameIdentifiers":[{"nameIdentifier":"619780","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"道川 祐市","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"619781","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"菅原 圭亮","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"619782","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"菅 智","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"619783","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"荘司 好美","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"619784","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"石川 顕一","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"619785","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"石川 敦子","creatorNameLang":"en"}],"nameIdentifiers":[{"nameIdentifier":"619786","nameIdentifierScheme":"WEKO"}]},{"creatorNames":[{"creatorName":"塩見 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