{"created":"2023-07-27T06:44:34.454046+00:00","id":34847,"links":{},"metadata":{"_buckets":{"deposit":"610e1f4f-6510-49b6-9d50-dbd29e8e1209"},"_deposit":{"created_by":3,"id":"34847","owners":[3],"pid":{"revision_id":0,"type":"depid","value":"34847"},"status":"published"},"_oai":{"id":"oai:kanazawa-u.repo.nii.ac.jp:00034847","sets":["2812:2813:2834"]},"author_link":["389","63329"],"item_9_biblio_info_8":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2000-03-01","bibliographicIssueDateType":"Issued"},"bibliographicPageStart":"15p.","bibliographicVolumeNumber":"1997-1999","bibliographic_titles":[{"bibliographic_title":"平成11(1999)年度 科学研究費補助金 基盤研究(A) 研究成果報告書"},{"bibliographic_title":"1999 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":"家族性高コレステロール血症(Familial hypercholesterolemia,FH):ホモ接合体およびヘテロ接合体性FH症例350例においてPCR-DGGE法を用いてLDL-レセプター(LDL-R)遺伝子異常を検討した。FH患者において,変異K790Xは20.9%と高頻度に認められ,北陸地方のFHにおけるcommon mutationと考えられた.われわれが見出したLDL-R遺伝子変異の合計11種のLDL-R遺伝子変異により,北陸地方のFH患者の38.8%が解明された. MTP欠損症(無βリポ蛋白血症):MTP欠損症患者の空腸生検から得たRNAをRT-PCRにて増幅し全長MTPcDNAを得た。発端者はイントロン9スプライスアクセプターG(-1)-to-A変異のホモ接合体であった。HinfI制限酵素によるPCR-RFLPの結果,母、妹、母方祖父は同変異のヘテロ接合体であったが、父および父方祖父母は正常型であった。STR多型マーカー解析でMTP遺伝子(4q22-24)を含む患者染色体4q21-35の領域は、母由来の染色体のみから成るイソダイソミーであった。その結果、uniparental disomy(UPD)という希な遺伝形式によることが判明した。 Tangier病:HDL-Cが極端に低下し、特徴的な扁桃肥大や動脈硬化を伴うTangier病は本邦では10例もない希な遺伝疾患である。1999年本疾患の成因はABC1遺伝子異常による細胞内のコレステロールの排出障害であることがNature Genetics 22:336,1999に報告された。われわれの3症例においても本邦で初めてABC1遺伝子異常が確認され、エクソン18のA2743CとN875H変異であった。","subitem_description_type":"Abstract"},{"subitem_description":"LDL-RECEPTOR ABNORMALITIES IN FAMILIAL HYPERCHOLESTEROLEMIA.\nMore than 600 different mutations in the LDL receptor gene have been reported in the world. We have collected 20 homozygotes and more than 1,500 heterozygotes of FH. Eleven variants of LDL receptor gene have been identified in our laboratory. K790X mutant of LDL-receptor gene was a common mutant in this district, and the frequency was 20,9% in FH patients. These 11 mutants accounted for only 38.8% of FH and in other 61.2% of FH the LDL receptor gene mutants remained unknown.\nMICROSOMAL TRANSFER PROTEIN (MTP) GENE MUTATION IN ABETALIPOPROTEINEMIA.\nThe proband was 29 male patient, and his CHOL level was 33 mg/dl, TG was 0 mg/dl, and HDL-C was 28 mg/dl. The gene analysis showed a point mutation in the junction of exon 10 and intron 9 (G to A), which would produce splicing abnormalities and no MTP protein. The proband had only his mother's genes in chromosome 4q. Maternal isodisomy was the basis for homozygosity of the MTP gene mutatin in this patient.\nABC1 MUTATION IN TANGIE'S DISEASE.\nTangier's disease is a rare disease characterized by very low levels of HDL-cholesterol, hypertrophy of orange-coloured tonsils, atherosclerosis and poluneuropathy. Less than 10 patients of Tangier's disease have been reported in Japan. In 1999, ABC1 mutations have been found to be a causative gene mutation in Tangier's disease. We found three novel mutations of ABC1 gene in our three Tangie's disease. Their mutation were A2743C and N875H mutation in exon 18.","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:09307010, 研究期間(年度):1997–1999","subitem_description_type":"Other"},{"subitem_description":"出典：「コレステロール代謝経路の分子遺伝子学的検討と動脈硬化の治療」研究成果報告書　課題番号09307010\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_identifier_registration":{"attribute_name":"ID登録","attribute_value_mlt":[{"subitem_identifier_reg_text":"10.24517/00034834","subitem_identifier_reg_type":"JaLC"}]},"item_9_publisher_17":{"attribute_name":"公開者","attribute_value_mlt":[{"subitem_publisher":"金沢大学医学部附属病院"}]},"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-09307010/","subitem_relation_type_select":"URI"}},{"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://kaken.nii.ac.jp/report/KAKENHI-PROJECT-09307010/093070101999kenkyu_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 2000-15p.pdf","filesize":[{"value":"640.8 kB"}],"format":"application/pdf","licensetype":"license_11","mimetype":"application/pdf","url":{"label":"ME-PR-MABUCHI-H-kaken 2000-15p.pdf","url":"https://kanazawa-u.repo.nii.ac.jp/record/34847/files/ME-PR-MABUCHI-H-kaken 2000-15p.pdf"},"version_id":"aa1eed59-06bd-448d-9adf-599529bf176b"}]},"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":"コレステロール代謝経路の分子遺伝子学的検討と動脈硬化の治療","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"コレステロール代謝経路の分子遺伝子学的検討と動脈硬化の治療"},{"subitem_title":"Molecular genetics of cholesterol metabolic pathway and treatment of atheroscleerosis","subitem_title_language":"en"}]},"item_type_id":"9","owner":"3","path":["2834"],"pubdate":{"attribute_name":"公開日","attribute_value":"2017-10-05"},"publish_date":"2017-10-05","publish_status":"0","recid":"34847","relation_version_is_last":true,"title":["コレステロール代謝経路の分子遺伝子学的検討と動脈硬化の治療"],"weko_creator_id":"3","weko_shared_id":3},"updated":"2023-07-27T14:48:51.170396+00:00"}