{"created":"2021-03-01T06:21:35.153061+00:00","id":16951,"links":{},"metadata":{"_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":["453:456","471:537:538:1114"]},"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' 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 (<-2 or >2) 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","filename":"111(11)_691-704.pdf","filesize":[{"value":"2.6 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","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'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'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'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"],"pubdate":{"attribute_name":"公開日","attribute_value":"2017-01-13"},"publish_date":"2017-01-13","publish_status":"0","recid":"16951","relation_version_is_last":true,"title":["MJD1遺伝子内のCAGリピート3'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_creator_id":"1","weko_shared_id":null},"updated":"2022-12-15T03:48:24.565789+00:00"}