{"created":"2023-07-27T06:58:40.969140+00:00","id":57591,"links":{},"metadata":{"_buckets":{"deposit":"b587e7d8-1286-41b6-a871-669fc9f075e7"},"_deposit":{"created_by":18,"id":"57591","owners":[18],"pid":{"revision_id":0,"type":"depid","value":"57591"},"status":"published"},"_oai":{"id":"oai:kanazawa-u.repo.nii.ac.jp:00057591","sets":["2812:2813:2832"]},"author_link":["20097","32307"],"item_9_biblio_info_8":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2003-09-16","bibliographicIssueDateType":"Issued"},"bibliographicPageStart":"2p.","bibliographicVolumeNumber":"1999 – 2001","bibliographic_titles":[{"bibliographic_title":"平成13(2001)年度 科学研究費補助金 基盤研究(C) 研究成果報告書概要"},{"bibliographic_title":"2001 Fiscal Year Final Research Report Summary","bibliographic_titleLang":"en"}]}]},"item_9_creator_33":{"attribute_name":"著者別表示","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{}],"nameIdentifiers":[{},{}]}]},"item_9_description_21":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"1.肥大型心筋症の家系調査ならびにサンプル収集:北陸地方における肥大型心筋症の調査を行ない、関連の認められない肥大型心筋症発端者患者270名を見い出した。これら270名について、インフォームド・コンセントを得た後、家族に関する聞き取り調査、心電図検査、心エコー図検査、遺伝子診断用採血(EDTA血10ml)を実施した。\n2.トロポニンI遺伝子変異の検索:270名の肥大型心筋症発端者患者について、末梢血白血球からgenomic DNAを抽出し、心筋トロポニンI遺伝子に対して作成したprimerを用いてPCR-SSCP法にてスクリーニングを行った。さらに、異常バンドが認められたものに対してはオートシーケンサーを用いてDNA配列を決定した。その結果、10名に心筋トロポニンI遺伝子Lysine183欠失変異を見い出した。また、同意の得られたこれら10名の家族70余名についても同様の検索を実施した。\n3.臨床的特徴の把握:上記10家系70余名の臨床的特徴について検討した。その結果、以下の特徴が明かとなった。(1)本遺伝子変異による肥大型心筋症は10歳代前半より発症し、心電図II, III, aVF, V5,V6誘導における異常Q波が最初に出現する。(2)心エコー図検査では10歳代後半より壁肥厚などの異常が出現し、心エコー図での異常は心電図異常に遅れて出現する。(3)本遺伝子変異による肥大型心筋症は浸透率が極めて高く、20歳以降ではほとんどのものが発症する。(4)遺伝子変異を有するものの約30%は40歳以降に収縮不全をきたし、これらの症例では心室中隔壁厚の減少と収縮機能の低下に相関が認められる。","subitem_description_type":"Abstract"},{"subitem_description":"We examined 270 consecutive unrelated probands with hypertrophic cardiomyopathy (HCM) who underwent genetic analysis, a 12-lead electrocardiography (ECG), and echocardiography. Informed consent was obtained from all subjects or from the parents of minors participating in the study.\nDNA was isolated from peripheral white blood cells of all subjects. In vitro amplification of genomic DNA was performed via polymerase chain reaction. Single-strand conformational polymorphism (SSCP) analysis of amplified DNA was then performed. For abnormal SSCP pattern, DNA sequences were determined by the Dye Terminator Cycle Sequencing method using an automated fluorescent sequencer. The lysine 183 deletion (K183del) mutation in the cardiac troponin I (cTnl) gene was identified in 10 of 270 probands with HCM. Family members of the affected probands were evaluated similarly after informed consent was obtained.\nIn the carrier subjects, ECG abnormalities were initially noted during the early teenage years. Abnormal Q waves were found first and were frequently observed in leads II, III, aVF, V5 and V6 in teenage patients. On the other hand, wall hypertrophy became noticeable only in their late teens, and echocardiographic abnormalities appeared later than ECG abnormalities. HCM caused by the K183del mutation in the cTnl gene has a high disease penetrance in subjects over 20 years of age. About 30% of patients with HCM caused by a K183del mutation in the cTnl gene developed systolic dysfunction after 40 years of age. The change in interventricular septal thickness and the change in % fractional shortening were significantly correlated.","subitem_description_type":"Abstract"}]},"item_9_description_22":{"attribute_name":"内容記述","attribute_value_mlt":[{"subitem_description":"研究課題/領域番号:11670665, 研究期間(年度):1999 – 2001","subitem_description_type":"Other"},{"subitem_description":"出典：「肥大型心筋症における心筋トロポニンI遺伝子変異」研究成果報告書　課題番号11670665\n（KAKEN：科学研究費助成事業データベース（国立情報学研究所））\n（https://kaken.nii.ac.jp/ja/report/KAKENHI-PROJECT-11670665/116706652001kenkyu_seika_hokoku_gaiyo/)を加工して作成","subitem_description_type":"Other"}]},"item_9_description_5":{"attribute_name":"提供者所属","attribute_value_mlt":[{"subitem_description":"金沢大学大学院・医学系研究科","subitem_description_type":"Other"}]},"item_9_identifier_registration":{"attribute_name":"ID登録","attribute_value_mlt":[{"subitem_identifier_reg_text":"10.24517/00063861","subitem_identifier_reg_type":"JaLC"}]},"item_9_relation_28":{"attribute_name":"関連URI","attribute_value_mlt":[{"subitem_relation_name":[{"subitem_relation_name_text":"https://kaken.nii.ac.jp/ja/search/?kw=20183402"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://kaken.nii.ac.jp/ja/search/?kw=20183402","subitem_relation_type_select":"URI"}},{"subitem_relation_name":[{"subitem_relation_name_text":"https://kaken.nii.ac.jp/ja/grant/KAKENHI-PROJECT-11670665/"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://kaken.nii.ac.jp/ja/grant/KAKENHI-PROJECT-11670665/","subitem_relation_type_select":"URI"}},{"subitem_relation_name":[{"subitem_relation_name_text":"https://kaken.nii.ac.jp/ja/report/KAKENHI-PROJECT-11670665/116706652001kenkyu_seika_hokoku_gaiyo/"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://kaken.nii.ac.jp/ja/report/KAKENHI-PROJECT-11670665/116706652001kenkyu_seika_hokoku_gaiyo/","subitem_relation_type_select":"URI"}}]},"item_9_version_type_25":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_ab4af688f83e57aa","subitem_version_type":"AM"}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2021-10-15"}],"displaytype":"detail","filename":"ME-PR-SHIMIZU-M-kaken 2003-2p.pdf","filesize":[{"value":"89.2 kB"}],"format":"application/pdf","licensetype":"license_11","mimetype":"application/pdf","url":{"label":"ME-PR-SHIMIZU-M-kaken 2003-2p.pdf","url":"https://kanazawa-u.repo.nii.ac.jp/record/57591/files/ME-PR-SHIMIZU-M-kaken 2003-2p.pdf"},"version_id":"a2418fcd-ede1-4f62-941d-96b2edc7b00f"}]},"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":"research report","resourceuri":"http://purl.org/coar/resource_type/c_18ws"}]},"item_title":"肥大型心筋症における心筋トロポニンI遺伝子変異","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"肥大型心筋症における心筋トロポニンI遺伝子変異"},{"subitem_title":"Cardiac troponin I gene mutation in patients with hypertrophic cardiomyopathy","subitem_title_language":"en"}]},"item_type_id":"9","owner":"18","path":["2832"],"pubdate":{"attribute_name":"公開日","attribute_value":"2021-10-15"},"publish_date":"2021-10-15","publish_status":"0","recid":"57591","relation_version_is_last":true,"title":["肥大型心筋症における心筋トロポニンI遺伝子変異"],"weko_creator_id":"18","weko_shared_id":-1},"updated":"2023-07-27T14:43:15.010488+00:00"}