{"_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"}, "item_7_alternative_title_1": {"attribute_name": "\u305d\u306e\u4ed6\u306e\u30bf\u30a4\u30c8\u30eb", "attribute_value_mlt": [{"subitem_alternative_title": "Molecular Basis of Group A Xeroderma Pigmentosum(Topics of lmmunogenetics)"}]}, "item_7_biblio_info_6": {"attribute_name": "\u66f8\u8a8c\u60c5\u5831", "attribute_value_mlt": [{"bibliographicIssueDates": {"bibliographicIssueDate": "1991-07", "bibliographicIssueDateType": "Issued"}, "bibliographicIssueNumber": "7", "bibliographicPageEnd": "469", "bibliographicPageStart": "458", "bibliographicVolumeNumber": "105", "bibliographic_titles": [{"bibliographic_title": "\u65b0\u6f5f\u533b\u5b66\u4f1a\u96d1\u8a8c"}, {"bibliographic_title": "\u65b0\u6f5f\u533b\u5b66\u4f1a\u96d1\u8a8c", "bibliographic_titleLang": "en"}]}]}, "item_7_description_4": {"attribute_name": "\u6284\u9332", "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\u2192C transversion at the 3\u2019splice 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": "\u8457\u8005\u5225\u540d", "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": "\u51fa\u7248\u8005", "attribute_value_mlt": [{"subitem_publisher": "\u65b0\u6f5f\u533b\u5b66\u4f1a"}]}, "item_7_select_19": {"attribute_name": "\u8457\u8005\u7248\u30d5\u30e9\u30b0", "attribute_value_mlt": [{"subitem_select_item": "publisher"}]}, "item_7_source_id_11": {"attribute_name": "\u66f8\u8a8c\u30ec\u30b3\u30fc\u30c9ID", "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": "\u8457\u8005", "attribute_type": "creator", "attribute_value_mlt": [{"creatorNames": [{"creatorName": "\u91cc\u65b9, \u4e00\u90ce"}], "nameIdentifiers": [{"nameIdentifier": "130723", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "\u7530\u4e2d, \u4e80\u4ee3\u6b21"}], "nameIdentifiers": [{"nameIdentifier": "130724", "nameIdentifierScheme": "WEKO"}]}]}, "item_files": {"attribute_name": "\u30d5\u30a1\u30a4\u30eb\u60c5\u5831", "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": "\u30ad\u30fc\u30ef\u30fc\u30c9", "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": "\u8272\u7d20\u6027\u4e7e\u76ae\u75c7", "subitem_subject_scheme": "Other"}, {"subitem_subject": "XPAC\u907a\u4f1d\u5b50", "subitem_subject_scheme": "Other"}, {"subitem_subject": "DNA\u591a\u578b", "subitem_subject_scheme": "Other"}]}, "item_language": {"attribute_name": "\u8a00\u8a9e", "attribute_value_mlt": [{"subitem_language": "jpn"}]}, "item_resource_type": {"attribute_name": "\u8cc7\u6e90\u30bf\u30a4\u30d7", "attribute_value_mlt": [{"resourcetype": "departmental bulletin paper", "resourceuri": "http://purl.org/coar/resource_type/c_6501"}]}, "item_title": "5) \u8272\u7d20\u6027\u4e7e\u76ae\u75c7A\u7fa4\u306e\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u89e3\u6790(\u30b7\u30f3\u30dd\u30b8\u30a6\u30e0 \u514d\u75ab\u907a\u4f1d\u5b66\u306e\u6700\u8fd1\u306e\u8a71\u984c, \u7b2c463\u56de\u65b0\u6f5f\u533b\u5b66\u4f1a)", "item_titles": {"attribute_name": "\u30bf\u30a4\u30c8\u30eb", "attribute_value_mlt": [{"subitem_title": "5) \u8272\u7d20\u6027\u4e7e\u76ae\u75c7A\u7fa4\u306e\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u89e3\u6790(\u30b7\u30f3\u30dd\u30b8\u30a6\u30e0 \u514d\u75ab\u907a\u4f1d\u5b66\u306e\u6700\u8fd1\u306e\u8a71\u984c, \u7b2c463\u56de\u65b0\u6f5f\u533b\u5b66\u4f1a)"}, {"subitem_title": "5) \u8272\u7d20\u6027\u4e7e\u76ae\u75c7A\u7fa4\u306e\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u89e3\u6790(\u30b7\u30f3\u30dd\u30b8\u30a6\u30e0 \u514d\u75ab\u907a\u4f1d\u5b66\u306e\u6700\u8fd1\u306e\u8a71\u984c, \u7b2c463\u56de\u65b0\u6f5f\u533b\u5b66\u4f1a)", "subitem_title_language": "en"}]}, "item_type_id": "7", "owner": "1", "path": ["453/456", "471/537/538/1184"], "permalink_uri": "http://hdl.handle.net/10191/39297", "pubdate": {"attribute_name": "\u516c\u958b\u65e5", "attribute_value": "2016-03-10"}, "publish_date": "2016-03-10", "publish_status": "0", "recid": "21355", "relation": {}, "relation_version_is_last": true, "title": ["5) \u8272\u7d20\u6027\u4e7e\u76ae\u75c7A\u7fa4\u306e\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u89e3\u6790(\u30b7\u30f3\u30dd\u30b8\u30a6\u30e0 \u514d\u75ab\u907a\u4f1d\u5b66\u306e\u6700\u8fd1\u306e\u8a71\u984c, \u7b2c463\u56de\u65b0\u6f5f\u533b\u5b66\u4f1a)"], "weko_shared_id": null}