{"created":"2023-05-15T16:44:20.901567+00:00","id":20019,"links":{},"metadata":{"_buckets":{"deposit":"c2b55624-18f6-43e7-b742-41029bf46481"},"_deposit":{"created_by":2,"id":"20019","owners":[2],"pid":{"revision_id":0,"type":"depid","value":"20019"},"status":"published"},"_oai":{"id":"oai:nagasaki-u.repo.nii.ac.jp:00020019","sets":["29:68:1343:1344"]},"author_link":["84231","84230","84232","84234","84233","84229"],"item_3_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2003-12","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"2","bibliographicPageEnd":"65","bibliographicPageStart":"63","bibliographicVolumeNumber":"16","bibliographic_titles":[{"bibliographic_title":"長崎大学医学部保健学科紀要"},{"bibliographic_title":"Bulletin of Nagasaki University School of Health Sciences","bibliographic_titleLang":"en"}]}]},"item_3_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Duchenne筋ジストロフィー（DMD）疑いの兄をもつ女性クライアントの遺伝カウンセリングを行った．クライアントは保因者である不安が強いため，遺伝子多型を用いたＸ染色体親起源検索を行った．クライアントは母親から兄とは異なるＸ染色体を伝達されており，DMD保因者である可能性は非常に低いと結論した．この過程でDMD遺伝子（DMD）3’側では有効な多型が検出されなかったので，新たにDMD3’側の多型マーカー検索を行い，８種類のマイクロサテライト・マーカーが検出された．今後，これらのマーカーはDMDの保因者・出生前診断の有用なマーカーとなると考えられる．","subitem_description_type":"Abstract"}]},"item_3_description_64":{"attribute_name":"引用","attribute_value_mlt":[{"subitem_description":"長崎大学医学部保健学科紀要 = Bulletin of Nagasaki University School of Health Sciences. 2003, 16(2), p.63-65","subitem_description_type":"Other"}]},"item_3_source_id_10":{"attribute_name":"書誌レコードID","attribute_value_mlt":[{"subitem_source_identifier":"AA11595980","subitem_source_identifier_type":"NCID"}]},"item_3_source_id_7":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"09160841","subitem_source_identifier_type":"ISSN"}]},"item_3_text_62":{"attribute_name":"sortkey","attribute_value_mlt":[{"subitem_text_value":"P00063-P00065"}]},"item_3_version_type_16":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_970fb48d4fbd8a85","subitem_version_type":"VoR"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"松本, 正"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"佐々木, 規子"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"宮原, 春美"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"土井, 知巳"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"天本, なぎさ"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"近藤, 達郎"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2020-12-23"}],"displaytype":"detail","filename":"igaku16_02_09_t.pdf","filesize":[{"value":"207.2 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"igaku16_02_09_t.pdf","url":"https://nagasaki-u.repo.nii.ac.jp/record/20019/files/igaku16_02_09_t.pdf"},"version_id":"c27d05b8-4d25-4d6c-9e29-17003251da66"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"遺伝カウンセリング","subitem_subject_scheme":"Other"},{"subitem_subject":"Duchenne筋ジストロフィー（DMD）","subitem_subject_scheme":"Other"},{"subitem_subject":"多型","subitem_subject_scheme":"Other"},{"subitem_subject":"保因者診断","subitem_subject_scheme":"Other"},{"subitem_subject":"新規マーカー","subitem_subject_scheme":"Other"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"jpn"}]},"item_resource_type":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"resourcetype":"departmental bulletin paper","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"遺伝カウンセリング第２報；DMD疑い例の保因者診断-DMD3’側の多型検索","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"遺伝カウンセリング第２報；DMD疑い例の保因者診断-DMD3’側の多型検索"}]},"item_type_id":"3","owner":"2","path":["1344"],"pubdate":{"attribute_name":"公開日","attribute_value":"2008-07-01"},"publish_date":"2008-07-01","publish_status":"0","recid":"20019","relation_version_is_last":true,"title":["遺伝カウンセリング第２報；DMD疑い例の保因者診断-DMD3’側の多型検索"],"weko_creator_id":"2","weko_shared_id":-1},"updated":"2023-05-16T02:53:25.421335+00:00"}