{"created":"2023-05-15T09:08:37.972938+00:00","id":16278,"links":{},"metadata":{"_buckets":{"deposit":"b6272fa4-42ab-482a-9589-bfe561530445"},"_deposit":{"created_by":15,"id":"16278","owners":[15],"pid":{"revision_id":0,"type":"depid","value":"16278"},"status":"published"},"_oai":{"id":"oai:sapmed.repo.nii.ac.jp:00016278","sets":["1658:1766:1852"]},"author_link":["31759","31760","31761","31762","31763","31764","31753","31754","31755","31756","31757","31758"],"item_7_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2001-03","bibliographicIssueDateType":"Issued"},"bibliographicPageEnd":"76","bibliographicPageStart":"69","bibliographicVolumeNumber":"4","bibliographic_titles":[{"bibliographic_title":"札幌医科大学保健医療学部紀要 = Bulletin of School of Health Sciences Sapporo Medical University"},{"bibliographic_title":"Bulletin of School of Health Sciences Sapporo Medical University","bibliographic_titleLang":"en"}]}]},"item_7_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"本研究では遺伝性疾患の遺伝子変異に対するスクリーニングに広く用いられているheteroduplex解析（HD）およびsingle-strand conformation polymorphism解析（SSCP）を用いて、その有効性を検討した。対象は遺伝性神経筋疾患であるX連鎖性myotubular myopathy（XLMTM）に関連するMTM1遺伝子およびCharcot-Marie-Tooth病type1B（CMT1B）に関連するP0遺伝子に変異が確認された患者５名とした。SSCPでは変異の検出に要した時間をHDと比較して約16時間から約９時間に短縮できた。泳動結果についてはHDではすべての患者の変異が確認できたのに対し、SSCPでは一塩基置換を示した患者１名の変異が確認できなかった。これらの結果から、SSCPはHDと比較してより短時間にスクリーニングできる有効な方法であることが示されたが、SSCPで検出できなかった患者に対しては、さらにHDを実施して確認する必要性が示唆された。Heteroduplex analysis（HD）and single-strand conformation polymorphism analysis（SSCP）are widely used for screening of mutation detection. We used HD and SSCP to detect the mutation of myotubularin（the MTM1 gene）in two patients with X-linked myotubular myopathy（XLMTM）, and the major structural protein of peripheral nerve myelin（the P0 gene）in three patients with Charcot-Marie-Tooth disease type 1B（CMT1B）. We tested the patients to compare with the rapidity and the sensitivity of these techniques. It was clarified that SSCP reduced the testing time by about 50％ in comparison to HD. In the results of electrophoresis, we could detect the altered migration pattern for all subjects using HD, but using SSCP, the mobility shift of one of patients with XLMTM could not be detected. Our results indicate that SSCP is a useful screening technique for the rapidity, however for a more accurate detection, HD should be used to complement.","subitem_description_type":"Abstract"}]},"item_7_full_name_3":{"attribute_name":"著者別名","attribute_value_mlt":[{"nameIdentifiers":[{"nameIdentifier":"31759","nameIdentifierScheme":"WEKO"}],"names":[{"name":"Eiji, UCHIDA"}]},{"nameIdentifiers":[{"nameIdentifier":"31760","nameIdentifierScheme":"WEKO"}],"names":[{"name":"Nobutada, TACHI"}]},{"nameIdentifiers":[{"nameIdentifier":"31761","nameIdentifierScheme":"WEKO"}],"names":[{"name":"Naoki, KOZUKA"}]},{"nameIdentifiers":[{"nameIdentifier":"31762","nameIdentifierScheme":"WEKO"}],"names":[{"name":"Yoshiko, ODANAKA"}]},{"nameIdentifiers":[{"nameIdentifier":"31763","nameIdentifierScheme":"WEKO"}],"names":[{"name":"Yasuhito, SENGOKU"}]},{"nameIdentifiers":[{"nameIdentifier":"31764","nameIdentifierScheme":"WEKO"}],"names":[{"name":"Hidekatsu, TAKEDA"}]}]},"item_7_identifier_registration":{"attribute_name":"ID登録","attribute_value_mlt":[{"subitem_identifier_reg_text":"10.15114/bshs.4.69","subitem_identifier_reg_type":"JaLC"}]},"item_7_publisher_32":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"札幌医科大学保健医療学部"}]},"item_7_source_id_7":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"1344-9192","subitem_source_identifier_type":"ISSN"}]},"item_7_version_type_15":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_970fb48d4fbd8a85","subitem_version_type":"VoR"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"内田, 英二"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"舘, 延忠"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"小塚, 直樹"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"小田中, 芳子"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"仙石, 泰仁"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"武田, 秀勝"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2019-09-11"}],"displaytype":"detail","filename":"n13449192469.pdf","filesize":[{"value":"1.3 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"n13449192469.pdf","url":"https://sapmed.repo.nii.ac.jp/record/16278/files/n13449192469.pdf"},"version_id":"ca521db5-b144-4aaf-a979-a25202e7a650"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"heteroduplex解析","subitem_subject_language":"ja","subitem_subject_scheme":"Other"},{"subitem_subject":"single-strand conformation polymorphism解析","subitem_subject_language":"ja","subitem_subject_scheme":"Other"},{"subitem_subject":"Ｘ連鎖性myotubular myopathy","subitem_subject_language":"ja","subitem_subject_scheme":"Other"},{"subitem_subject":"Charcot-Marie-Tooth病type1B","subitem_subject_language":"ja","subitem_subject_scheme":"Other"},{"subitem_subject":"heteroduplex analysis","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"single-strand conformation polymorphism analysis","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"X-linked myotubular myopathy","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Charcot-Marie-Tooth disease type 1B","subitem_subject_language":"en","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":"遺伝性神経筋疾患の遺伝子変異スクリーニングにおけるheteroduplex 解析およびsingle-strand conformation polymorphism 解析の有効性","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"遺伝性神経筋疾患の遺伝子変異スクリーニングにおけるheteroduplex 解析およびsingle-strand conformation polymorphism 解析の有効性","subitem_title_language":"ja"},{"subitem_title":"The study of heteroduplex analysis and single-strand conformation polymorphism analysis for detection of mutations in hereditary neuromuscular disorders.","subitem_title_language":"en"}]},"item_type_id":"7","owner":"15","path":["1852"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2019-09-11"},"publish_date":"2019-09-11","publish_status":"0","recid":"16278","relation_version_is_last":true,"title":["遺伝性神経筋疾患の遺伝子変異スクリーニングにおけるheteroduplex 解析およびsingle-strand conformation polymorphism 解析の有効性"],"weko_creator_id":"15","weko_shared_id":-1},"updated":"2023-12-13T02:55:27.186623+00:00"}