{"_buckets": {"deposit": "3318c2ed-dad7-4da2-a314-560d62cb80d4"}, "_deposit": {"id": "21355", "owners": [], "pid": {"revision_id": 0, "type": "depid", "value": "21355"}, "status": "published"}, "_oai": {"id": "oai:niigata-u.repo.nii.ac.jp:00021355", "sets": ["456", "1184"]}, "item_7_alternative_title_1": {"attribute_name": "その他のタイトル", "attribute_value_mlt": [{"subitem_alternative_title": "Molecular Basis of Group A Xeroderma Pigmentosum(Topics of lmmunogenetics)"}]}, "item_7_biblio_info_6": {"attribute_name": "書誌情報", "attribute_value_mlt": [{"bibliographicIssueDates": {"bibliographicIssueDate": "1991-07", "bibliographicIssueDateType": "Issued"}, "bibliographicIssueNumber": "7", "bibliographicPageEnd": "469", "bibliographicPageStart": "458", "bibliographicVolumeNumber": "105", "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": "The molecular basis of group A xeroderma pigmentosum (XP) was studied and 3 mutations of the XP group A complementing gene (XPAC) were identified. One was a G→C transversion at the 3’splice acceptor site of intron 3, which caused aberrant RNA splicing resulting in loss of enzyme activity of the XPAC protein. This transversion creates a new cleavage site for the restriction nuclease AlwN I. Analysis of AlwN I restriction fragment length polymorphism (RFLP) showed a high frequency of this mutation in Japanese patients with group A XP: 16 of 21 unrelated Japanese patients were homozygous and 4 were heterozygous for this mutation. The Second mutation was a nucleotide transition altering the Arg-228 codon (CGA) to a nonsense codon (TGA). Of 21 unrelated Japanese group A XP patient examined, one was a homozygote for this mutation and 3 were compound heterozygotes for this mutation and for the splicing mutation of intron 3. The third mutation was a nucleotide transversion altering the Tyr-116 codon (TAT) to a nonsense codon (TAA). Of the Japanese patients, 2 had this mutant allele. The latter two mutations create new cleavage sites for the restriction nucleases Hph I and Mse I, respectively. Our data indicate that almost all Japanese cases of group A XP are caused by one or more of these 3 mutations. Therefore, by RFLP analysis of PCR-amplified DNA sequences using the 3 restriction enzymes, described above, rapid and reliable diagnosis of group A XP can be achieved in almost all Japanese subjects including prenatal cases and carriers.", "subitem_description_type": "Abstract"}]}, "item_7_full_name_3": {"attribute_name": "著者別名", "attribute_value_mlt": [{"nameIdentifiers": [{"nameIdentifier": "130725", "nameIdentifierScheme": "WEKO"}], "names": [{"name": "Satokata, Ichiro"}]}, {"nameIdentifiers": [{"nameIdentifier": "130726", "nameIdentifierScheme": "WEKO"}], "names": [{"name": "Tanaka, Kiyoji"}]}]}, "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": "里方, 一郎"}], "nameIdentifiers": [{"nameIdentifier": "130723", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "田中, 亀代次"}], "nameIdentifiers": [{"nameIdentifier": "130724", "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": "2019-08-16"}], "displaytype": "detail", "download_preview_message": "", "file_order": 0, "filename": "105(7)_458-469.pdf", "filesize": [{"value": "3.5 MB"}], "format": "application/pdf", "future_date_message": "", "is_thumbnail": false, "licensetype": "license_free", "mimetype": "application/pdf", "size": 3500000.0, "url": {"label": "105(7)_458-469.pdf", "url": "https://niigata-u.repo.nii.ac.jp/record/21355/files/105(7)_458-469.pdf"}, "version_id": "b90a7d2c-6465-4026-9ac7-df5634245cf1"}]}, "item_keyword": {"attribute_name": "キーワード", "attribute_value_mlt": [{"subitem_subject": "xeroderma pigmentosum", "subitem_subject_scheme": "Other"}, {"subitem_subject": "XPAC gene", "subitem_subject_scheme": "Other"}, {"subitem_subject": "DNA polymorphism", "subitem_subject_scheme": "Other"}, {"subitem_subject": "色素性乾皮症", "subitem_subject_scheme": "Other"}, {"subitem_subject": "XPAC遺伝子", "subitem_subject_scheme": "Other"}, {"subitem_subject": "DNA多型", "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": "5) 色素性乾皮症A群の分子遺伝学的解析(シンポジウム 免疫遺伝学の最近の話題, 第463回新潟医学会)", "item_titles": {"attribute_name": "タイトル", "attribute_value_mlt": [{"subitem_title": "5) 色素性乾皮症A群の分子遺伝学的解析(シンポジウム 免疫遺伝学の最近の話題, 第463回新潟医学会)"}, {"subitem_title": "5) 色素性乾皮症A群の分子遺伝学的解析(シンポジウム 免疫遺伝学の最近の話題, 第463回新潟医学会)", "subitem_title_language": "en"}]}, "item_type_id": "7", "owner": "1", "path": ["456", "1184"], "permalink_uri": "http://hdl.handle.net/10191/39297", "pubdate": {"attribute_name": "公開日", "attribute_value": "2016-03-10"}, "publish_date": "2016-03-10", "publish_status": "0", "recid": "21355", "relation": {}, "relation_version_is_last": true, "title": ["5) 色素性乾皮症A群の分子遺伝学的解析(シンポジウム 免疫遺伝学の最近の話題, 第463回新潟医学会)"], "weko_shared_id": null}