{"created":"2021-03-01T06:17:02.659133+00:00","id":12745,"links":{},"metadata":{"_buckets":{"deposit":"459c79b9-5189-422a-9d99-537c01f336b6"},"_deposit":{"id":"12745","owners":[],"pid":{"revision_id":0,"type":"depid","value":"12745"},"status":"published"},"_oai":{"id":"oai:niigata-u.repo.nii.ac.jp:00012745","sets":["453:456","471:537:538:1031"]},"item_7_alternative_title_1":{"attribute_name":"その他のタイトル","attribute_value_mlt":[{"subitem_alternative_title":"A Study of Synuclein Related Genes for Onset of α-Synucleinopathies"}]},"item_7_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2005-01","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"1","bibliographicPageEnd":"30","bibliographicPageStart":"18","bibliographicVolumeNumber":"119","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":"Parkinson病(PD),Lewy小体型痴呆(DLB)はLewy小体,多系統萎縮症ではGlial cytoplasmic inclusionが診断に欠かせない病理所見である.いずれもα-synuclein(SNCA)が主な構成要素であることから,これらの疾患を\"α-synucleinopathy\"と総称する.これらα-synucleinopathyに対するsynuclein関連蛋白の関与について遺伝子からの検討を行った.DLB21例(うち,家族性10例)に対して,SNCAとその相同体であるβ-synuclein(SNCB),γ-synuclein(SNCG)の翻訳領域を直接塩基配列決定法で解析した.このうち,SNCBのアミノ酸置換を伴う一塩基置換(V70M)と,SNCGのアミノ酸置換を伴う一塩基置換(E86G)が家族歴を持たないDLBの,それぞれ各1例に認められた.この一塩基置換は正常対照279例,PD患者354例には認められなかった.多系統萎縮症48例においては,SNCA,SNCB,SNCGとSynphilin-1(SNCAIP)遺伝子の一塩基多型(SNP)を調べ,各多型のアレル頻度について疾患対照相関解析を行ったが,有意差は認められなかった.SNCAにおいて解析したSNPs,91.2kbの範囲にわたって,D'(絶対値)>0.7で強い連鎖不平衡を認めた.またSNPsより推定されるhaplotypeは患者・対照群全例が,6つのパターンに集約され,その頻度分布に相違は認めなかった.一方,SNCAIPにおいては,111.6kbの範囲からSNPを選択したが,D'>0.25による評価では,2つの連鎖不平衡領域の存在が示唆され,R2>0.25では,まとまった連鎖不平衡領域が指摘できなかった.同領域から推定されるhaplotypeは10パターン以上に及び,患者群と対照群間でhaplotype分布に有意差を認めた.PDのみならず,他のα-synucleinopathyの発症に対し,SNCB,SNCG,SNCAIPという関連蛋白の遺伝子が関与している可能性を示した.","subitem_description_type":"Abstract"}]},"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":"大竹, 弘哲"}],"nameIdentifiers":[{"nameIdentifier":"84775","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":"2019-08-07"}],"displaytype":"detail","filename":"KJ00004300012.pdf","filesize":[{"value":"1.7 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"KJ00004300012.pdf","url":"https://niigata-u.repo.nii.ac.jp/record/12745/files/KJ00004300012.pdf"},"version_id":"6f46fc62-be22-409c-9534-08a2486f0232"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"Synucleinopathy","subitem_subject_scheme":"Other"},{"subitem_subject":"Dementia with Lewy Bodies","subitem_subject_scheme":"Other"},{"subitem_subject":"Multiple system atrophy","subitem_subject_scheme":"Other"},{"subitem_subject":"β-synuclein","subitem_subject_scheme":"Other"},{"subitem_subject":"γ-synuclein","subitem_subject_scheme":"Other"},{"subitem_subject":"Synphilin-1","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":"α-synucleinopathy発症に対するsynuclein関連遺伝子の寄与についての検討","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"α-synucleinopathy発症に対するsynuclein関連遺伝子の寄与についての検討"},{"subitem_title":"α-synucleinopathy発症に対するsynuclein関連遺伝子の寄与についての検討","subitem_title_language":"en"}]},"item_type_id":"7","owner":"1","path":["456","1031"],"pubdate":{"attribute_name":"公開日","attribute_value":"2007-05-10"},"publish_date":"2007-05-10","publish_status":"0","recid":"12745","relation_version_is_last":true,"title":["α-synucleinopathy発症に対するsynuclein関連遺伝子の寄与についての検討"],"weko_creator_id":"1","weko_shared_id":null},"updated":"2022-12-15T03:45:30.190955+00:00"}