{"created":"2021-03-01T06:16:44.010697+00:00","id":9936,"links":{},"metadata":{"_buckets":{"deposit":"595121e4-cc19-478c-b133-d9cfd611c813"},"_deposit":{"id":"9936","owners":[],"pid":{"revision_id":0,"type":"depid","value":"9936"},"status":"published"},"_oai":{"id":"oai:nagoya.repo.nii.ac.jp:00009936","sets":["499:960:961"]},"author_link":["30097"],"item_12_alternative_title_19":{"attribute_name":"その他のタイトル","attribute_value_mlt":[{"subitem_alternative_title":"偏ったX 染色体不活性化に伴う二卵性双生児の女性血友病B","subitem_alternative_title_language":"ja"}]},"item_12_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2009-03-25","bibliographicIssueDateType":"Issued"}}]},"item_12_date_granted_64":{"attribute_name":"学位授与年月日","attribute_value_mlt":[{"subitem_dategranted":"2009-03-25"}]},"item_12_degree_grantor_62":{"attribute_name":"学位授与機関","attribute_value_mlt":[{"subitem_degreegrantor":[{"subitem_degreegrantor_language":"ja","subitem_degreegrantor_name":"名古屋大学"},{"subitem_degreegrantor_language":"en","subitem_degreegrantor_name":"NAGOYA University"}],"subitem_degreegrantor_identifier":[{"subitem_degreegrantor_identifier_name":"13901","subitem_degreegrantor_identifier_scheme":"kakenhi"}]}]},"item_12_degree_name_61":{"attribute_name":"学位名","attribute_value_mlt":[{"subitem_degreename":"博士(医療技術学)","subitem_degreename_language":"ja"}]},"item_12_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Female carriers of haemophilia B are usually asymptomatic; however, the disease resulting from different pathophysiological mechanisms has rarely been documented in females. In this study, we investigated the mechanisms responsible for haemophilia B in fraternal female twins. We sequenced the factor IX gene (F9) of the propositus, her father, a severe haemophilia B patient, and the other family members. X chromosome inactivation was assessed by the methylation-sensitive HpaII-PCR assay using X-linked polymorphisms in human phosphoglycerate kinase 1 gene (PGK1) and glutamate receptor ionotropic AMPA 3 gene (GRIA3). The twins were found to be heterozygotes with a nonsense mutation (p.Arg384X) inherited from their father. The propositus, more severely affected twin, exhibited a significantly higher percentage of inactivation in the maternally derived X chromosome carrying a normal F9. The other twin also showed a skewed maternal X inactivation, resulting in a patient with mild haemophilia B. Thus, the degree of skewing of maternal X inactivation is closely correlated with the coagulation parameters and the clinical phenotypes of the twins. Furthermore, we identified a crossing-over in the Xq25.26 region of the maternal X chromosome of the more severely affected twin. This crossing-over was absent in the other twin, consistent with their fraternal state. Differently skewed X inactivation in the fraternal female twins might cause moderately severe and mild haemophilia B phenotypes, respectively.","subitem_description_language":"en","subitem_description_type":"Abstract"}]},"item_12_description_5":{"attribute_name":"内容記述","attribute_value_mlt":[{"subitem_description":"名古屋大学博士学位論文 学位の種類:博士（医療技術学）（課程） 学位授与年月日:平成21年3月25日","subitem_description_language":"ja","subitem_description_type":"Other"}]},"item_12_dissertation_number_65":{"attribute_name":"学位授与番号","attribute_value_mlt":[{"subitem_dissertationnumber":"甲第8248号"}]},"item_12_identifier_60":{"attribute_name":"URI","attribute_value_mlt":[{"subitem_identifier_type":"HDL","subitem_identifier_uri":"http://hdl.handle.net/2237/11746"}]},"item_12_select_15":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_select_item":"publisher"}]},"item_12_text_14":{"attribute_name":"フォーマット","attribute_value_mlt":[{"subitem_text_value":"application/pdf"}]},"item_12_text_63":{"attribute_name":"学位授与年度","attribute_value_mlt":[{"subitem_text_value":"2008"}]},"item_access_right":{"attribute_name":"アクセス権","attribute_value_mlt":[{"subitem_access_right":"open access","subitem_access_right_uri":"http://purl.org/coar/access_right/c_abf2"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"奥村, 薫","creatorNameLang":"ja"}],"nameIdentifiers":[{"nameIdentifier":"30097","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":"2018-02-20"}],"displaytype":"detail","filename":"k8248_thesis.pdf","filesize":[{"value":"321.7 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"k8248_thesis.pdf","objectType":"fulltext","url":"https://nagoya.repo.nii.ac.jp/record/9936/files/k8248_thesis.pdf"},"version_id":"a83f37d2-1e8e-4dee-af73-0145979bdf84"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"eng"}]},"item_resource_type":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"resourcetype":"doctoral thesis","resourceuri":"http://purl.org/coar/resource_type/c_db06"}]},"item_title":"Skewed X chromosome inactivation in fraternal female twins results in moderately severe and mild haemophilia B","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Skewed X chromosome inactivation in fraternal female twins results in moderately severe and mild haemophilia B","subitem_title_language":"en"}]},"item_type_id":"12","owner":"1","path":["961"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2009-05-12"},"publish_date":"2009-05-12","publish_status":"0","recid":"9936","relation_version_is_last":true,"title":["Skewed X chromosome inactivation in fraternal female twins results in moderately severe and mild haemophilia B"],"weko_creator_id":"1","weko_shared_id":-1},"updated":"2023-01-16T04:41:05.218621+00:00"}