{"created":"2021-03-01T06:26:23.791864+00:00","id":21355,"links":{},"metadata":{"_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":["453:456","471:537:538:1184"]},"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","filename":"105(7)_458-469.pdf","filesize":[{"value":"3.5 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","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"],"pubdate":{"attribute_name":"公開日","attribute_value":"2016-03-10"},"publish_date":"2016-03-10","publish_status":"0","recid":"21355","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_creator_id":"1","weko_shared_id":null},"updated":"2022-12-15T03:51:53.900826+00:00"}