{"created":"2023-05-15T09:08:36.919458+00:00","id":16254,"links":{},"metadata":{"_buckets":{"deposit":"b7b77cf9-46c1-4393-b513-08063b93715c"},"_deposit":{"created_by":15,"id":"16254","owners":[15],"pid":{"revision_id":0,"type":"depid","value":"16254"},"status":"published"},"_oai":{"id":"oai:sapmed.repo.nii.ac.jp:00016254","sets":["1658:1766:1850"]},"author_link":["31527","31528","31529","31530","31531","31532","31521","31522","31523","31524","31525","31526"],"item_7_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2003-03","bibliographicIssueDateType":"Issued"},"bibliographicPageEnd":"58","bibliographicPageStart":"49","bibliographicVolumeNumber":"6","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":"The purposes of this study are to establish the effective and efficient screening protocol identifying the gene mutation, and to clarify the relationship between genotype and phenotype of Xlinked myotubular myopathy (XLMTM) using the molecular genetic method. Five male patients in five families with XLMTM based on clinical features and muscle biopsy were analyzed according to the screening protocol. Three types of abnormal band were identified by SSCP and HD analysis using genomic DNA from patients. In the direct sequence analysis, two frameshift mutations in exon 4 and 10 and one nonsense mutation in exon 3 were found. Frameshift mutation in exon 10 was a novel mutation. RT-PCR method was performed to the other patients who showed no abnormal bands by SSCP and HD. In the direct sequence analysis, one missense mutation was found in exon 9. This mutation was a novel mutation. The relationship between phenotype and genotype was not clarified. The screening protocol employed in this study detected the three mutations in genomic DNA and the one mutation in cDNA. The patient whom the mutation was not found was supposed to have the mutation in non-coding region of MTM1 gene. Present protocol is considered to be suitable to detect the mutations in XLMTM. 本研究は遺伝性筋疾患であるX-linked myotubular myopathy（XLMTM）における遺伝子解析において、遺伝子変異を検出する効果的かつ効率的なスクリーニング方法を規定すること、および本疾患の表現型と遺伝子型の関連を明らかにすることを目的とした。対象は臨床症状および筋生検によって重症のXLMTMと診断された５家系５名の男児とし、スクリーニングプロトコルにしたがって解析を行った。その結果、ゲノムDNAを用いたSSCPおよびHD解析において５名の患者のうち、３名について泳動変異を検出した。これらの直接塩基配列決定の結果、２名のフレームシフト変異（エクソン４および10）と１名のナンセンス変異（エクソン３）が確認された。エクソン10におけるフレームシフト変異はこれまで報告例のない新しい変異であった。ゲノムDNAを用いたスクリーニングで泳動変異が観察されなかった２名の患者に対してはRT?PCR法を用いたcDNAの直接塩基配列決定を行った。その結果、１名のミスセンス変異（エクソン９）を同定し、これまで報告例のない新しい変異であることを確認した。残り１名については変異が確認できなかった。表現型と遺伝子型の関係については、すべての患者が重症例であったこと、症例数が少なかったことから明らかにできなかった。本研究ではゲノムDNAで３名、cDNAで１名の遺伝子変異を確認したが、変異を確認できなかった患者は非翻訳領域に変異が存在する可能性が考えられた。これらの結果から、本研究で実施したスクリーニングプロトコルはXLMTMにおける遺伝子変異検出に対し十分適切であることが考えられる。","subitem_description_type":"Abstract"}]},"item_7_full_name_3":{"attribute_name":"著者別名","attribute_value_mlt":[{"nameIdentifiers":[{"nameIdentifier":"31527","nameIdentifierScheme":"WEKO"}],"names":[{"name":"内田, 英二"}]},{"nameIdentifiers":[{"nameIdentifier":"31528","nameIdentifierScheme":"WEKO"}],"names":[{"name":"舘, 延忠"}]},{"nameIdentifiers":[{"nameIdentifier":"31529","nameIdentifierScheme":"WEKO"}],"names":[{"name":"小塚, 直樹"}]},{"nameIdentifiers":[{"nameIdentifier":"31530","nameIdentifierScheme":"WEKO"}],"names":[{"name":"菊池, 真"}]},{"nameIdentifiers":[{"nameIdentifier":"31531","nameIdentifierScheme":"WEKO"}],"names":[{"name":"仙石, 泰仁"}]},{"nameIdentifiers":[{"nameIdentifier":"31532","nameIdentifierScheme":"WEKO"}],"names":[{"name":"武田, 秀勝"}]}]},"item_7_identifier_registration":{"attribute_name":"ID登録","attribute_value_mlt":[{"subitem_identifier_reg_text":"10.15114/bshs.6.49","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":"Eiji, UCHIDA"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Nobutada, TACHI"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Naoki, KOZUKA"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Shin, KIKUCHI"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Yasuhito, SENGOKU"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Hidekatsu, TAKEDA"}],"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":"n13449192649.pdf","filesize":[{"value":"1.8 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"n13449192649.pdf","url":"https://sapmed.repo.nii.ac.jp/record/16254/files/n13449192649.pdf"},"version_id":"5708170e-b5ef-41cd-9fae-f3f6eb4c32f1"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"X-linked recessive myotubular myopathy","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"MTM1 gene","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Mutation screening","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Genetic analysis","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"RT-PCR method","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"X染色体劣性遺伝ミオチューブラーミオパチー","subitem_subject_language":"ja","subitem_subject_scheme":"Other"},{"subitem_subject":"MTM1遺伝子","subitem_subject_language":"ja","subitem_subject_scheme":"Other"},{"subitem_subject":"遺伝子変異スクリーニング","subitem_subject_language":"ja","subitem_subject_scheme":"Other"},{"subitem_subject":"遺伝子解析","subitem_subject_language":"ja","subitem_subject_scheme":"Other"},{"subitem_subject":"RT-PCR法","subitem_subject_language":"ja","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":"Molecular genetic analysis of X-linked recessive myotubular myopathy","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Molecular genetic analysis of X-linked recessive myotubular myopathy","subitem_title_language":"en"},{"subitem_title":"Ｘ染色体劣性遺伝ミオチューブラーミオパチーの遺伝子解析","subitem_title_language":"ja"}]},"item_type_id":"7","owner":"15","path":["1850"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2019-09-11"},"publish_date":"2019-09-11","publish_status":"0","recid":"16254","relation_version_is_last":true,"title":["Molecular genetic analysis of X-linked recessive myotubular myopathy"],"weko_creator_id":"15","weko_shared_id":-1},"updated":"2023-12-13T02:54:45.504291+00:00"}