{"created":"2023-07-27T06:58:39.213322+00:00","id":57500,"links":{},"metadata":{"_buckets":{"deposit":"c8274a72-7fa2-4bf5-8dd8-2f7858205620"},"_deposit":{"created_by":18,"id":"57500","owners":[18],"pid":{"revision_id":0,"type":"depid","value":"57500"},"status":"published"},"_oai":{"id":"oai:kanazawa-u.repo.nii.ac.jp:00057500","sets":["2812:2813:2831"]},"author_link":["99493","21446"],"item_9_biblio_info_8":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2004-04-13","bibliographicIssueDateType":"Issued"},"bibliographicPageStart":"2p.","bibliographicVolumeNumber":"2001 – 2002","bibliographic_titles":[{"bibliographic_title":"平成14(2002)年度 科学研究費補助金 基盤研究(C) 研究報告書概要"},{"bibliographic_title":"2002 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":"全国医療機関よりインフォームドコンセントの上提供された邦人特発性ヘモクロマトーシス(HC)患者19名のDNAを用い、HFEの解析を行なった。HFEの全exon(1-6)をPCRで増幅後、direct sequence法にて全塩基配列の決定を行なった。欧米の遺伝性HC患者の大多数に認められるHFEの変異H63D、C287Yについては、19名中4名にH63D変異のheterozygosityを認めたが、C287Y変異はいずれの患者にも見い出されなかった。さらにその他のcoding lesionに関しても塩基配列を確認したが新たな変異は見い出されなかった。しかし、intron2+4においてthymineがcytosineに変化する変異(IVS intron2+4T/C)を高頻度に認めた。19人中12人はC/C、7人はT/C、でありwild typeのhomozygoteは1人も認めなかった。この変異はsplice siteの近傍にあるため、HFEのsplice errorを引き起こす可能性も示唆されたためRFLP法にて健常ボランチアのDNA解析を行なったが、特発生HC群と正常コントロール群の間に有意差は認められ無かった。以上より特発性HC患者においてはHFEは原因遺伝子ではなく、欧米に高頻度に認められる遺伝性HCとは本質的に異なる可能性が示唆された。今後特発性HC患者において、他の鉄関連遺伝子異常を検索し原因遺伝子を同定する予定であるが、このことは特発性HC患者の病態把握にとって重要であるだけでは無く、C型慢性肝炎患者を含め他の慢性肝疾患の病態の進展や治療法の選択にも大きく寄与するものと考えられる。","subitem_description_type":"Abstract"},{"subitem_description":"Background : Hereditary hemochromatosis (HH) is an autosomal recessive disorder caused by HFE mutations, mostly homozygosity for C282Y or compound heterozygosity for C282Y and H63D in Caucasian. In other populations, however, HH patients have no such mutations, and significance of HFE is unknown in these patients. Furthermore most of cases of hemochromatosis in Asian populations are sporadic ; no C282Y mutations, and only a few cases of H63D have been reported. However, there have been no studies analyzing the entire HFE coding regions to date ; the relationship between HFE and hemochromatosis in Asian populations remains unclear, Aim : To determine the significance of the HFE gene in hemochromatosis among Asian populations. Subjects & Methods : Unrelated nineteen Japanese patients with idiopathic hemochromatosis were tested. Genomic DNA was extracted from white blood cells, after performing PCR all coding regions were analyzed by direct sequencing. Results : No patients possessed C282Y mutations and only one patient was H63D heterozygous. Furthermore, no other casual mutations were identified in the HFE coding region. However, a high incidence of IVS2+4T/C mutation was noted. Twelve patients were C/C, five patients T/C, and none were T/T genotype. Discussion : This study suggests that HFE is not indicative for idiopathic hemochromatosis. However, a high prevalence of IVS2+4T/C mutation was found. Whether or not this mutation is contributes to hemochromatosis through abnormal splicing remains unclear. Further studies are necessary.","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:13670501, 研究期間(年度):2001 – 2002","subitem_description_type":"Other"},{"subitem_description":"出典：「ヘモクロマトーシスにおける遺伝子解析」研究成果報告書　課題番号13670501\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-13670501/136705012002kenkyu_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":"金沢大学医学部附属病院","subitem_description_type":"Other"}]},"item_9_identifier_registration":{"attribute_name":"ID登録","attribute_value_mlt":[{"subitem_identifier_reg_text":"10.24517/00063770","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=20251944"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://kaken.nii.ac.jp/ja/search/?kw=20251944","subitem_relation_type_select":"URI"}},{"subitem_relation_name":[{"subitem_relation_name_text":"https://kaken.nii.ac.jp/ja/grant/KAKENHI-PROJECT-13670501/"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://kaken.nii.ac.jp/ja/grant/KAKENHI-PROJECT-13670501/","subitem_relation_type_select":"URI"}},{"subitem_relation_name":[{"subitem_relation_name_text":"https://kaken.nii.ac.jp/ja/report/KAKENHI-PROJECT-13670501/136705012002kenkyu_seika_hokoku_gaiyo/"}],"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://kaken.nii.ac.jp/ja/report/KAKENHI-PROJECT-13670501/136705012002kenkyu_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":"2021-10-21"}],"displaytype":"detail","filename":"ME-PR-OKADA-T-kaken 2004-2p.pdf","filesize":[{"value":"80.8 kB"}],"format":"application/pdf","licensetype":"license_11","mimetype":"application/pdf","url":{"label":"ME-PR-OKADA-T-kaken 2004-2p.pdf","url":"https://kanazawa-u.repo.nii.ac.jp/record/57500/files/ME-PR-OKADA-T-kaken 2004-2p.pdf"},"version_id":"7ce9dc86-12e3-4245-bfb5-dd812111c4b5"}]},"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":"ヘモクロマトーシスにおける遺伝子解析","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"ヘモクロマトーシスにおける遺伝子解析"},{"subitem_title":"Gene analysis of Hemochromatosis","subitem_title_language":"en"}]},"item_type_id":"9","owner":"18","path":["2831"],"pubdate":{"attribute_name":"公開日","attribute_value":"2021-10-21"},"publish_date":"2021-10-21","publish_status":"0","recid":"57500","relation_version_is_last":true,"title":["ヘモクロマトーシスにおける遺伝子解析"],"weko_creator_id":"18","weko_shared_id":-1},"updated":"2023-07-27T14:39:31.634905+00:00"}