{"created":"2023-07-27T06:44:37.982636+00:00","id":34926,"links":{},"metadata":{"_buckets":{"deposit":"c188236d-cdbf-4b96-8df2-2ac4b391fb54"},"_deposit":{"created_by":3,"id":"34926","owners":[3],"pid":{"revision_id":0,"type":"depid","value":"34926"},"status":"published"},"_oai":{"id":"oai:kanazawa-u.repo.nii.ac.jp:00034926","sets":["2812:2813:2843"]},"author_link":["389","63329"],"item_9_biblio_info_8":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"1991-03-01","bibliographicIssueDateType":"Issued"},"bibliographicPageStart":"42p.","bibliographicVolumeNumber":"1988-1990","bibliographic_titles":[{"bibliographic_title":"平成2(1990)年度 科学研究費補助金 一般研究(B) 研究成果報告書"},{"bibliographic_title":"1990 Fiscal Year Final Research Report","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":"主な研究内容は以下の3項目である。 1) 家族性高コレステロ-ル血症(FH)におけるLDLレセプタ-(LDLーR)遺伝子異常 ヘテロFH患者210家系を検討し、4種の新しいLDLーR遺伝子変異を発見した。(1)FHーTonamiー1:このLDLーR遺伝子異常は第15エクソンと隣接のイントロンを含む約6kbの部分欠損である。LDLーR蛋白の発現は、正常細胞では120KDの前駆体が160KDの成熟体となるのに対し、FHーTonamiー1では正常より小さい約100KDの前駆体が多量に合成されるが、成熟体へ移行することなく、速やかに細胞内で分解される。(2)FHーTonamiー2:第2,3エクソンを含む約10kbの欠損によりガンド結合領域が部分欠損した異常LDLーRである。この異常LDLーRの活性は正常の約40%あるので、ホモFHーTonamiー2の4例でも比較的軽症であり、64,53,51,35才と生存中である。(3)FHーKanazawa,FHーOkayama:新しいLDLーR変異と判明した。 2) アポ蛋白Bー100遺伝子異常 アポ蛋白Bー100遺伝子のエクソン26の1塩基変異により第3500番のアミノ酸がArgからGlnへ変化し、LDLーRと結合しなくなる変異を本邦で初めて1家系2例で確認した。 3) CETP遺伝子異常 ホモ接合体性家族性高HDL血症はCETPの欠損による疾患であることを発見し、本症のCETP遺伝子異常はエクソン14とイントロン14の接合部のG→A点変異であることを明らかにした。本邦において、CETP欠損症ホモ型10例、ヘテロ型20例を見出だした。CETP欠損は高HDL血症と同時に低LDL血症をもらたすことが判明した。","subitem_description_type":"Abstract"},{"subitem_description":"Results are follows ;\n1) LDL-receptor (LDL-R) gene abnormalities in familial hypercholesterolemia (FH)\nLDL-R gene analysis of heterozygous FH patients from 210 families revealed four new mutants. (1) FH-Tonami-1 : This LDL-R gene mutant showed a partial deletion of about 6kb including exon 15 and its neighboring introns. In the normal cultured skin fibroblasts, about 120KD of LDL-R precursor protein proceeded into a mature 160KD, while in this mutant cells the smaller precursors of 100KD never proceeded into mature forms and were destroyed in the cells. (2) FH-Tonami-2 : This mutant shows a deletion of about 10kb including exons 2 and 3, and produces a partial deficiency of bind-binding domain of the receptor. The activity of the mutant receptor is about 40% of normal, and therefore, this mutant produces a mild type of FH, and the four homozygous patients of this mutant survive to reach the ages of 64, 53, 51, 35 years. (3) FH-Kanazawa and FH-Okayama are proved to be new mutants of LDL-R\n2) Two patients from a family showed the familial defective apolipoprotein B-100, showing one point mutation of exon 26, changing amino acid 3500 (Arg) into Gln.\n3) Cholesteryl ester transfer protein (CETP) deficiency Homozygous familial hyper-HDL-emia has proved to be produced by a deficiency of CETP, and the deficiency of the CETP gene has been proved to be a G to A mutation of the junction of exon 14 and intron 14. Ten homozygous and 20 heterozygous patients with CETP deficiency were discovered in Japan, and the deficiency of CETP has been found to produce a hypo-LDL-emia as well hyper-HDL-emia.","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:63480187, 研究期間(年度):1988–1990","subitem_description_type":"Other"},{"subitem_description":"出典：「高族性高脂血症の分子遺伝学的研究」研究成果報告書　課題番号63480187\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　　　本文データは著者版報告書より作成","subitem_description_type":"Other"}]},"item_9_publisher_17":{"attribute_name":"公開者","attribute_value_mlt":[{"subitem_publisher":"金沢大学医学部"}]},"item_9_relation_28":{"attribute_name":"関連URI","attribute_value_mlt":[{"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://kaken.nii.ac.jp/search/?qm=00019960","subitem_relation_type_select":"URI"}},{"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-63480187/","subitem_relation_type_select":"URI"}},{"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://kaken.nii.ac.jp/report/KAKENHI-PROJECT-63480187/634801871990kenkyu_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":"2017-10-05"}],"displaytype":"detail","filename":"ME-PR-MABUCHI-H-kaken 1991-42p.pdf","filesize":[{"value":"1.2 MB"}],"format":"application/pdf","licensetype":"license_11","mimetype":"application/pdf","url":{"label":"ME-PR-MABUCHI-H-kaken 1991-42p.pdf","url":"https://kanazawa-u.repo.nii.ac.jp/record/34926/files/ME-PR-MABUCHI-H-kaken 1991-42p.pdf"},"version_id":"b3c4660d-3eeb-43ac-bdff-67806d295096"}]},"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":"高族性高脂血症の分子遺伝学的研究","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"高族性高脂血症の分子遺伝学的研究"},{"subitem_title":"Molecular Genetics of Familial Hyperlipidemias","subitem_title_language":"en"}]},"item_type_id":"9","owner":"3","path":["2843"],"pubdate":{"attribute_name":"公開日","attribute_value":"2017-10-05"},"publish_date":"2017-10-05","publish_status":"0","recid":"34926","relation_version_is_last":true,"title":["高族性高脂血症の分子遺伝学的研究"],"weko_creator_id":"3","weko_shared_id":3},"updated":"2023-07-27T14:51:29.454333+00:00"}