{"_buckets": {"deposit": "91c99f6f-aa34-47c0-b826-49f3ff461a1e"}, "_deposit": {"id": "16951", "owners": [], "pid": {"revision_id": 0, "type": "depid", "value": "16951"}, "status": "published"}, "_oai": {"id": "oai:niigata-u.repo.nii.ac.jp:00016951", "sets": ["456", "1114"]}, "item_7_alternative_title_1": {"attribute_name": "その他のタイトル", "attribute_value_mlt": [{"subitem_alternative_title": "Intergenerational Instability of the CAG Repeat of the Gene for Machado-Joseph Disease (MJD1) is Affected by the Genotype of the Normal Chromosome"}]}, "item_7_biblio_info_6": {"attribute_name": "書誌情報", "attribute_value_mlt": [{"bibliographicIssueDates": {"bibliographicIssueDate": "1997-11", "bibliographicIssueDateType": "Issued"}, "bibliographicIssueNumber": "11", "bibliographicPageEnd": "704", "bibliographicPageStart": "691", "bibliographicVolumeNumber": "111", "bibliographic_titles": [{"bibliographic_title": "新潟医学会雑誌"}, {"bibliographic_title": "新潟医学会雑誌", "bibliographic_titleLang": "en"}]}]}, "item_7_description_4": {"attribute_name": "抄録", "attribute_value_mlt": [{"subitem_description": "Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder caused by unstable expansion of a CAG repeat in the MJD1 gene at 14q32.1. To identify elements affecting the intergenerational instability of the CAG repeat, we investigated whether the CGG/GGG polymorphism at the 3\u0027 end of the CAG repeat affects the intergenerational instability of the CAG repeat. The ［expanded (CAG) n-CGG］/［normal (CAG) n-GGG］ haplotypes were found to result in significantly greater instability of the CAG repeat compared to the ［expanded (CAG) n-CGG］/［nomal (CAG) n-CGG］ or ［expanded (CAG) n-GGG］/［nomal (CAG) n-GGG］ haplotypes. Multiple stepwise logistic regression analysis revealed that the relative risk for a large intergenerational change in the number of CAG repeat units (\u003c-2 or \u003e2) is 7.7-fold ［95% Cl：2.5-23.9］ higher in the case of paternal transmission than in that of maternal transmission and 7.4-fold ［95% Cl：2.4-23.3］ higher in the case of transmission from a parent with the ［expanded (CAG) n-CGG］/［normal (CAG) n-GGG］ haplotypes than in that of transmission from a parent with the ［expanded (CAG) n-CGG］/［normal (CAG) n-CGG］ or ［expanded (CAG) n-GGG］/［normal (CAG) n-GGG］ haplotypes. The combination of paternal transmission and the ［expanded (CAG) n-CGG］/［nomal (CAG) n-GGG］ haplotypes resulted in a 75.2-fold ［95% Cl：9.0-625.0］ increase in the relative risk compared with that of maternal transmission and the ［expanded (CAG) n-CGG］/［normal (CAG) n-CGG］or［expanded (CAG) n-GGG］/［normal (CAG) n-GGG］haplotypes. The results suggest that an inter-allelic interaction is involved in the intergenarational instability of the expanded CAG repeat.", "subitem_description_type": "Abstract"}]}, "item_7_full_name_3": {"attribute_name": "著者別名", "attribute_value_mlt": [{"nameIdentifiers": [{"nameIdentifier": "107355", "nameIdentifierScheme": "WEKO"}], "names": [{"name": "Igarashi, Shuichi"}]}]}, "item_7_publisher_7": {"attribute_name": "出版者", "attribute_value_mlt": [{"subitem_publisher": "新潟医学会"}]}, "item_7_select_19": {"attribute_name": "著者版フラグ", "attribute_value_mlt": [{"subitem_select_item": "publisher"}]}, "item_7_source_id_11": {"attribute_name": "書誌レコードID", "attribute_value_mlt": [{"subitem_source_identifier": "AN00182415", "subitem_source_identifier_type": "NCID"}]}, "item_7_source_id_9": {"attribute_name": "ISSN", "attribute_value_mlt": [{"subitem_source_identifier": "00290440", "subitem_source_identifier_type": "ISSN"}]}, "item_creator": {"attribute_name": "著者", "attribute_type": "creator", "attribute_value_mlt": [{"creatorNames": [{"creatorName": "五十嵐, 修一"}], "nameIdentifiers": [{"nameIdentifier": "107354", "nameIdentifierScheme": "WEKO"}]}]}, "item_files": {"attribute_name": "ファイル情報", "attribute_type": "file", "attribute_value_mlt": [{"accessrole": "open_date", "date": [{"dateType": "Available", "dateValue": "2019-08-08"}], "displaytype": "detail", "download_preview_message": "", "file_order": 0, "filename": "111(11)_691-704.pdf", "filesize": [{"value": "2.6 MB"}], "format": "application/pdf", "future_date_message": "", "is_thumbnail": false, "licensetype": "license_free", "mimetype": "application/pdf", "size": 2600000.0, "url": {"label": "111(11)_691-704.pdf", "url": "https://niigata-u.repo.nii.ac.jp/record/16951/files/111(11)_691-704.pdf"}, "version_id": "9d11c7fe-a1f3-44ab-8c9b-6a50f454881f"}]}, "item_keyword": {"attribute_name": "キーワード", "attribute_value_mlt": [{"subitem_subject": "Machado-Joseph disease", "subitem_subject_scheme": "Other"}, {"subitem_subject": "MJD1 gene", "subitem_subject_scheme": "Other"}, {"subitem_subject": "CAG repeat", "subitem_subject_scheme": "Other"}, {"subitem_subject": "inter-allelic interaction", "subitem_subject_scheme": "Other"}, {"subitem_subject": "gene conversion", "subitem_subject_scheme": "Other"}, {"subitem_subject": "マシャドージョセフ病", "subitem_subject_scheme": "Other"}, {"subitem_subject": "MJD1 遺伝子", "subitem_subject_scheme": "Other"}, {"subitem_subject": "CAG リピート", "subitem_subject_scheme": "Other"}, {"subitem_subject": "アリル間相互作用", "subitem_subject_scheme": "Other"}, {"subitem_subject": "遺伝子変換", "subitem_subject_scheme": "Other"}]}, "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": "departmental bulletin paper", "resourceuri": "http://purl.org/coar/resource_type/c_6501"}]}, "item_title": "MJD1遺伝子内のCAGリピート3\u0027末のCGG/GGG多型に関するCAGリピートの世代間における不安定性の分子遺伝学的検討", "item_titles": {"attribute_name": "タイトル", "attribute_value_mlt": [{"subitem_title": "MJD1遺伝子内のCAGリピート3\u0027末のCGG/GGG多型に関するCAGリピートの世代間における不安定性の分子遺伝学的検討"}, {"subitem_title": "MJD1遺伝子内のCAGリピート3\u0027末のCGG/GGG多型に関するCAGリピートの世代間における不安定性の分子遺伝学的検討", "subitem_title_language": "en"}]}, "item_type_id": "7", "owner": "1", "path": ["456", "1114"], "permalink_uri": "http://hdl.handle.net/10191/45514", "pubdate": {"attribute_name": "公開日", "attribute_value": "2017-01-13"}, "publish_date": "2017-01-13", "publish_status": "0", "recid": "16951", "relation": {}, "relation_version_is_last": true, "title": ["MJD1遺伝子内のCAGリピート3\u0027末のCGG/GGG多型に関するCAGリピートの世代間における不安定性の分子遺伝学的検討"], "weko_shared_id": null}