{"created":"2023-06-19T10:29:07.608364+00:00","id":1244,"links":{},"metadata":{"_buckets":{"deposit":"c9d78d32-bf2e-4a20-a763-20410ab1b98c"},"_deposit":{"created_by":31,"id":"1244","owners":[31],"pid":{"revision_id":0,"type":"depid","value":"1244"},"status":"published"},"_oai":{"id":"oai:kwmed.repo.nii.ac.jp:00001244","sets":["1709617079800:35:262:504"]},"author_link":["114229","114230"],"item_1694495855422":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_version_type":"VoR"}]},"item_3_biblio_info_12":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2002","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"2","bibliographicPageEnd":"82","bibliographicPageStart":"73","bibliographicVolumeNumber":"28","bibliographic_titles":[{"bibliographic_title":"川崎医学会誌","bibliographic_titleLang":"ja"},{"bibliographic_title":"Kawasaki medical journal","bibliographic_titleLang":"en"}]}]},"item_3_description_8":{"attribute_name":"記事種別(日)","attribute_value_mlt":[{"subitem_description":"原著","subitem_description_language":"ja","subitem_description_type":"Other"}]},"item_3_identifier_14":{"attribute_name":"URL","attribute_value_mlt":[{"subitem_identifier_type":"URI","subitem_identifier_uri":"http://igakkai.kms-igakkai.com/wp/wp-content/uploads/2002/KMJ28(2)073-082.2002.pdf"}]},"item_3_relation_20":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_type_id":{"subitem_relation_type_id_text":"https://doi.org/10.11482/KMJ28(2)073-082.2002.pdf","subitem_relation_type_select":"DOI"}}]},"item_3_source_id_1":{"attribute_name":"雑誌書誌ID","attribute_value_mlt":[{"subitem_source_identifier":"AN00045593","subitem_source_identifier_type":"NCID"},{"subitem_source_identifier":"AN12940574","subitem_source_identifier_type":"NCID"}]},"item_3_source_id_19":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"0386-5924","subitem_source_identifier_type":"PISSN"},{"subitem_source_identifier":"2758-089X","subitem_source_identifier_type":"EISSN"}]},"item_3_text_6":{"attribute_name":"著者所属(日)","attribute_value_mlt":[{"subitem_text_language":"ja","subitem_text_value":"川崎医科大学内科血液部門"}]},"item_3_text_7":{"attribute_name":"著者所属(英)","attribute_value_mlt":[{"subitem_text_language":"en","subitem_text_value":"Division of Hematology, Department of Medicine, Kawasaki Medical School"}]},"item_3_textarea_10":{"attribute_name":"抄録(日)","attribute_value_mlt":[{"subitem_textarea_language":"ja","subitem_textarea_value":"日本人における遺伝性球状赤血球症(HS)の病因解析のため,genemic DNAを用いたanlyrin-1 (ANK-1)の遺伝子解析をおこなった.本研究では,HS63家系,67例を対象とした.このうち20家系20例において,HSの病因と推定される19種のANK-1遺伝子異常(frameshift mutation9種, nonsense mutation4種, splicing異常6種)が検出された.これらの遺伝子変異はいずれも,欧米諸国では既報がなく,わが国固有のものと考えられた.日本人のHSにおけるANK-1遺伝子異常は全体の30-50%を占めていると推察された.これらANK-1遺伝子異常を有する症例における赤血球膜蛋白分析の成績では,ankyrin蛋白欠損型を呈した症例は無く,一方でprotein4.2(P4.2)単独部分欠損を呈した症例が17例(85%)認められた.よって,日本人に特徴的とされるP4.2単独部分欠損を伴うHSでは,その多くがankyrin遺伝子異常を有しており,ankyrinがP4.2の安定性に関与している可能性が示唆された."}]},"item_3_textarea_11":{"attribute_name":"抄録(英)","attribute_value_mlt":[{"subitem_textarea_language":"en","subitem_textarea_value":"To elucidate the phathogenesis of hereditary spherocytosis (HS) in the Japanese population, we studied the ankyrin-1 (ANK-1) gene of genomic DNA from Japanese patients with HS. Sixty-seven patients from 63 unrelated families were included in this study. Nineteen mutations of the ANK-1 gene pathognomonic for HS from 20 families were identified : nine frameshift mutations, four nonsense mutations, and six abnormal splicing mutations. These mutations have not been previously reported, and are thought to be specific to the Japanese population. The incidence of ANK-1 gene mutations in Japanese HS patients ranges from at the least 30% to 50% of the total HS kindred. At the protein level, ankyrin deficiency was not observed in these 20 patients with ankyrin mutations. In contrast, mild deficiency of protein 4.2 (P4.2) was observed in 17 patients (85%) with ankyrin mutations. Therefore, it is feasible that most cases of HS with a mild deficiency of P 4.2 at the protein level, most common in Japanese HS kindred, are caused by anlyrin mutations."}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"中西, 秀和","creatorNameLang":"ja"},{"creatorName":"ナカニシ, ヒデカズ","creatorNameLang":"ja-Kana"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"NAKANISHI, Hidekazu","creatorNameLang":"en"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2017-01-23"}],"displaytype":"detail","filename":"KJ00001725503.pdf","filesize":[{"value":"799.5 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"KJ00001725503.pdf","objectType":"fulltext","url":"https://kwmed.repo.nii.ac.jp/record/1244/files/KJ00001725503.pdf"},"version_id":"97b8005c-e788-4b1b-90ca-b7ebb52080b2"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"Anlyrin","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Hereditary sperocytosis","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Red blood cell membrane","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Gene analysis","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"Protein 4.2","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":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"日本人の遺伝性球状赤血球症におけるankyrin遺伝子変異の解析","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"日本人の遺伝性球状赤血球症におけるankyrin遺伝子変異の解析","subitem_title_language":"ja"},{"subitem_title":"Ankyrin Gene Mutations in Japanese Patients with Hereditary Spherocytosis","subitem_title_language":"en"}]},"item_type_id":"3","owner":"31","path":["504"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2017-01-23"},"publish_date":"2017-01-23","publish_status":"0","recid":"1244","relation_version_is_last":true,"title":["日本人の遺伝性球状赤血球症におけるankyrin遺伝子変異の解析"],"weko_creator_id":"31","weko_shared_id":-1},"updated":"2024-04-16T04:18:15.297914+00:00"}