{"created":"2023-07-27T06:44:36.154915+00:00","id":34885,"links":{},"metadata":{"_buckets":{"deposit":"5784e955-efa7-4cfe-9a21-cda451cc7765"},"_deposit":{"created_by":3,"id":"34885","owners":[3],"pid":{"revision_id":0,"type":"depid","value":"34885"},"status":"published"},"_oai":{"id":"oai:kanazawa-u.repo.nii.ac.jp:00034885","sets":["2812:2813:2837"]},"author_link":["389","63329"],"item_9_biblio_info_8":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"1997-03-01","bibliographicIssueDateType":"Issued"},"bibliographicPageStart":"11p.","bibliographicVolumeNumber":"1995-1996","bibliographic_titles":[{"bibliographic_title":"平成8(1996)年度 科学研究費補助金 基盤研究(B) 研究成果報告書"},{"bibliographic_title":"1996 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":"[1]FHのLDLレセプター(LDL-R)遺伝子異常:ホモFH患者18家系20例とヘテロFH患者200例で新たなLDL-R遺伝子の点変異を発見した。(1) FH-Tsurugaはエクソン6の280番のAspがTyrに変異していた。この変異はTrue homozygote 3例とヘテロ接合体6例が確認された。(2) FH-Kanazawa-2は664番のProがLeuに変異していた。(3) FH-Moriokaは395番のArgがTrpに変異したものであった。FH-Moriokaのtrue tomozygotesを示す2例のうち1例はは現在73歳とホモFH患者としては長寿であった。(4) FH-Nanao ;ホモFH患者でLDL-R遺伝子エクソン2のG→Aを発見しFH-Nanaoと命名した(Stop23変異)。(5) FH-Yokote ; 2才の女児でエクソン15にC→Tへの点変異と判明した(Stop718変異)。以前に報告した4種の大きな欠失にこれら5点変異を加えると北陸のFHの17.5%が解析できた。 [2]CETP遺伝子異常症:CETP遺伝子の新たな2変異を発見した。エクソン14とイントロン14の接合部のG→A点変異に加えて、2番目の変異としてイントロン14の接合部(+3)にTの挿入が確認された。この変異は1例しか発見されていない。3番目の変異はエクソン15の442番目のアスパラギン酸からグリシンへの点変異で、60家系でホモ4例、ヘテロ84例が発見された。これらのCETP遺伝子異常は一般人718人中68例と高頻度であった。 [3]LCAT欠損症の遺伝子異常:発端者は37才男性でCHOL228mg/dl、HDL-C34mg/dlでLCAT活性が0%で、遺伝子検索ではAからGへの変異により30番のSer→Glyに変異していた。 [4]無βリポ蛋白血症のMTP遺伝子異常:症例は29歳男性。TC33mg/dl、TG0mg/dl、HDL-C28mg/dlでMicrosomal TG transfer protein (MTP)遺伝子の変異を検討し、エクソン10からイントロン9への接合部のGからAへの変異があり、スプライス異常が見出された。","subitem_description_type":"Abstract"},{"subitem_description":"LDL-RECEPTOR ABNORMALITIES IN FAMILIAL HYPERCHOLESTEROLEMIA.More than 230 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.Nine variants of LDL receptor gene have been identified in our laboratory. Four mutants showed large deletions detected by Southern blot analysis, and 5 mutants were point mutations detected by SSCP analysis and direct sequencing of PCR products. These 9 mutants accounted for only 17.5% of FH.FH Tsuruga showed a point mutation in exon 6 (280 Asp-Tyr). FH Kanazawa-2 showed a point mutaiopn of 395 Arg-Trp. FH Morioka shwoed a point mutation from C to T (395 Arg-Trp) in exon 9.FH Nanao showed 23 stop mutant in exon 2.FH Yokote showed a mutation of 718 stop in exon 15.\nCHOLESTERYL-ESTER TRANSFER PROTEIN (CETP) DEFICIENCY IN FAMILIAL HYPER-HDL-CHOLESTEROLEMIA.The genomic DNA of patients with CETP deficiency was used as a substrate for amplification of the CETP gene by PC R.At the 5'splice donor of intron 14 (position+1) there was a G to A change altering the strictly conserved G-T intron splice donor to A-T.We found two novel mutants of CETP gene. One splice donor site mutant is a thymidine insertion in +3 position in intron 14, which will, again, result in splicing defect. Another new mutant is a missense mutation in exon 15, producing change of aspartic acid into glycine. This mutant is also highly frequent, almost 1 in 10. Thus, these two common mutants produce at least 68 CETP heterozygotes in 718 general subjects, and might raise the HDL-cholesterol levels and reduce coronary heart disease in the Japanese.\nLCATDEFICIENCY.The proband is 37 male patient, and his CHOL level was 228mg/dl, HDL-C was 34 mg/dl, his LCAT activity was 0%, and the gene analysis showed a point mutant of 30 Ser-Gly.\nMICROSOMAL TRANSFER PROTEIN (MTP) GENE MUTATION IN ABETALIPOPROTEINEMIA.The proband was 29 male patient, and his CHOL level was 33mg/dl, TG was 0mg/dl, and HDL-C was 28mg/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.","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:07457123, 研究期間(年度):1995–1996","subitem_description_type":"Other"},{"subitem_description":"出典：「コレステロール転送および逆転送異常症の遺伝子診断と遺伝子治療」研究成果報告書　課題番号07457123\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-07457123/","subitem_relation_type_select":"URI"}},{"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://kaken.nii.ac.jp/report/KAKENHI-PROJECT-07457123/074571231996kenkyu_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 1997-11p.pdf","filesize":[{"value":"602.4 kB"}],"format":"application/pdf","licensetype":"license_11","mimetype":"application/pdf","url":{"label":"ME-PR-MABUCHI-H-kaken 1997-11p.pdf","url":"https://kanazawa-u.repo.nii.ac.jp/record/34885/files/ME-PR-MABUCHI-H-kaken 1997-11p.pdf"},"version_id":"2d1cf0ae-93ad-420e-af3f-2f218aa82416"}]},"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":"コレステロール転送および逆転送異常症の遺伝子診断と遺伝子治療","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"コレステロール転送および逆転送異常症の遺伝子診断と遺伝子治療"},{"subitem_title":"Gene diagnosis and gene therapy of cholesterol transport and cholesterol reverse transport disorders","subitem_title_language":"en"}]},"item_type_id":"9","owner":"3","path":["2837"],"pubdate":{"attribute_name":"公開日","attribute_value":"2017-10-05"},"publish_date":"2017-10-05","publish_status":"0","recid":"34885","relation_version_is_last":true,"title":["コレステロール転送および逆転送異常症の遺伝子診断と遺伝子治療"],"weko_creator_id":"3","weko_shared_id":3},"updated":"2023-07-27T14:53:53.625795+00:00"}