{"created":"2023-06-20T14:25:39.273413+00:00","id":835,"links":{},"metadata":{"_buckets":{"deposit":"360d27e1-d053-4555-822e-dc16c582a282"},"_deposit":{"created_by":3,"id":"835","owners":[3],"pid":{"revision_id":0,"type":"depid","value":"835"},"status":"published"},"_oai":{"id":"oai:dmu.repo.nii.ac.jp:00000835","sets":["81:53"]},"author_link":["3583"],"item_2_biblio_info_12":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2010-03-25","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"1","bibliographicPageEnd":"T47","bibliographicPageStart":"T37","bibliographicVolumeNumber":"37","bibliographic_titles":[{"bibliographic_title":"Dokkyo journal of medical sciences"}]}]},"item_2_description_10":{"attribute_name":"抄録(日)","attribute_value_mlt":[{"subitem_description":"口唇・口蓋裂の発症は多因子遺伝と考えられ,未だ原因の詳細は不明である.著者は,葉酸の代謝関連酵素であるMTHFR遺伝子のC677T ならびにA1298C の多型が日本人孤発性非症候群の口唇・口蓋裂の発症と関連するのか検討を行った.対象は口唇・口蓋裂患児240症例,その父親103症例,ならびに母親153症例で,健常人68名を対照とした.多型の検出は血液よりDNA を抽出し,PCR 増幅と制限酵素処理により,C677T多型とA1298C 多型の発現について,1.ケース・コントロールスタディ症例群,2.伝達不平衡テスト,3.ハプロタイプ解析について分析した.その結果,MTHFR遺伝子 C677T およびA1298C 多型は,日本人の口唇・口蓋裂発症と関連はないものと考えられた.その理由として,MTHFR 677( C→T)変異,1298(A→C)変異のホモ結合体の割合が低いこと,人種間の相違などが考えられたが,TT多型の頻度は比較的高い傾向を示し,血清葉酸濃度や血清ホモシステイン濃度との関係について検討する必要があると思われた.","subitem_description_type":"Other"}]},"item_2_description_8":{"attribute_name":"記事種別(日)","attribute_value_mlt":[{"subitem_description":"学位申請論文","subitem_description_type":"Other"}]},"item_2_source_id_1":{"attribute_name":"雑誌書誌ID","attribute_value_mlt":[{"subitem_source_identifier":"AA00629581"}]},"item_2_source_id_19":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"03855023","subitem_source_identifier_type":"ISSN"}]},"item_2_text_6":{"attribute_name":"著者所属(日)","attribute_value_mlt":[{"subitem_text_value":"獨協医科大学口腔外科学"}]},"item_2_title_3":{"attribute_name":"論文名よみ","attribute_value_mlt":[{"subitem_title":"ニホン ジン コハツセイ コウシン ・ コウガイ レツ ハッショウ ニ カンスル 5,10-methylentetrahydrofolate reductase( MTHFR) イデンシ C677T・A1298C タケイ ノ カイセキ "}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"越路, 千佳子"},{"creatorName":"コシジ, チカコ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2017-05-24"}],"displaytype":"detail","filename":"KJ00006373979.pdf","filesize":[{"value":"343.7 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"KJ00006373979.pdf","url":"https://dmu.repo.nii.ac.jp/record/835/files/KJ00006373979.pdf"},"version_id":"6c1a8b71-19d0-45d3-917d-e8795035d353"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"遺伝子多型"},{"subitem_subject":"口唇・口蓋裂"},{"subitem_subject":"多因子遺伝"},{"subitem_subject":"葉酸"}]},"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":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"日本人孤発性口唇・口蓋裂発症に関する5,10-methylentetrahydrofolate reductase( MTHFR)遺伝子 C677T・A1298C多型の解析","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"日本人孤発性口唇・口蓋裂発症に関する5,10-methylentetrahydrofolate reductase( MTHFR)遺伝子 C677T・A1298C多型の解析"}]},"item_type_id":"2","owner":"3","path":["53"],"pubdate":{"attribute_name":"公開日","attribute_value":"2017-05-24"},"publish_date":"2017-05-24","publish_status":"0","recid":"835","relation_version_is_last":true,"title":["日本人孤発性口唇・口蓋裂発症に関する5,10-methylentetrahydrofolate reductase( MTHFR)遺伝子 C677T・A1298C多型の解析"],"weko_creator_id":"3","weko_shared_id":3},"updated":"2023-06-20T16:18:17.157428+00:00"}