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  1. 0 資料タイプ別
  2. 03 紀要論文
  1. 250 大学院医歯学総合研究科(医)
  2. 20 紀要
  3. 02 新潟医学会雑誌
  4. 第111巻第11号

MJD1遺伝子内のCAGリピート3'末のCGG/GGG多型に関するCAGリピートの世代間における不安定性の分子遺伝学的検討

http://hdl.handle.net/10191/45514
http://hdl.handle.net/10191/45514
0be01cd1-8989-4aae-af32-b8e5f6af70b0
名前 / ファイル ライセンス アクション
111(11)_691-704.pdf 111(11)_691-704.pdf (2.6 MB)
Item type 紀要論文 / Departmental Bulletin Paper(1)
公開日 2017-01-13
タイトル
タイトル MJD1遺伝子内のCAGリピート3'末のCGG/GGG多型に関するCAGリピートの世代間における不安定性の分子遺伝学的検討
タイトル
言語 en
タイトル MJD1遺伝子内のCAGリピート3'末のCGG/GGG多型に関するCAGリピートの世代間における不安定性の分子遺伝学的検討
言語
言語 jpn
キーワード
主題Scheme Other
主題 Machado-Joseph disease
キーワード
主題Scheme Other
主題 MJD1 gene
キーワード
主題Scheme Other
主題 CAG repeat
キーワード
主題Scheme Other
主題 inter-allelic interaction
キーワード
主題Scheme Other
主題 gene conversion
キーワード
主題Scheme Other
主題 マシャドージョセフ病
キーワード
主題Scheme Other
主題 MJD1 遺伝子
キーワード
主題Scheme Other
主題 CAG リピート
キーワード
主題Scheme Other
主題 アリル間相互作用
キーワード
主題Scheme Other
主題 遺伝子変換
資源タイプ
資源 http://purl.org/coar/resource_type/c_6501
タイプ departmental bulletin paper
その他のタイトル
その他のタイトル Intergenerational Instability of the CAG Repeat of the Gene for Machado-Joseph Disease (MJD1) is Affected by the Genotype of the Normal Chromosome
著者 五十嵐, 修一

× 五十嵐, 修一

WEKO 107354

五十嵐, 修一

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著者別名
識別子 107355
識別子Scheme WEKO
姓名 Igarashi, Shuichi
抄録
内容記述タイプ Abstract
内容記述 Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder caused by unstable expansion of a CAG repeat in the MJD1 gene at 14q32.1. To identify elements affecting the intergenerational instability of the CAG repeat, we investigated whether the CGG/GGG polymorphism at the 3' end of the CAG repeat affects the intergenerational instability of the CAG repeat. The [expanded (CAG) n-CGG]/[normal (CAG) n-GGG] haplotypes were found to result in significantly greater instability of the CAG repeat compared to the [expanded (CAG) n-CGG]/[nomal (CAG) n-CGG] or [expanded (CAG) n-GGG]/[nomal (CAG) n-GGG] haplotypes. Multiple stepwise logistic regression analysis revealed that the relative risk for a large intergenerational change in the number of CAG repeat units (<-2 or >2) is 7.7-fold [95% Cl:2.5-23.9] higher in the case of paternal transmission than in that of maternal transmission and 7.4-fold [95% Cl:2.4-23.3] higher in the case of transmission from a parent with the [expanded (CAG) n-CGG]/[normal (CAG) n-GGG] haplotypes than in that of transmission from a parent with the [expanded (CAG) n-CGG]/[normal (CAG) n-CGG] or [expanded (CAG) n-GGG]/[normal (CAG) n-GGG] haplotypes. The combination of paternal transmission and the [expanded (CAG) n-CGG]/[nomal (CAG) n-GGG] haplotypes resulted in a 75.2-fold [95% Cl:9.0-625.0] increase in the relative risk compared with that of maternal transmission and the [expanded (CAG) n-CGG]/[normal (CAG) n-CGG]or[expanded (CAG) n-GGG]/[normal (CAG) n-GGG]haplotypes. The results suggest that an inter-allelic interaction is involved in the intergenarational instability of the expanded CAG repeat.
書誌情報 新潟医学会雑誌
en : 新潟医学会雑誌

巻 111, 号 11, p. 691-704, 発行日 1997-11
出版者
出版者 新潟医学会
ISSN
収録物識別子タイプ ISSN
収録物識別子 00290440
書誌レコードID
収録物識別子タイプ NCID
収録物識別子 AN00182415
著者版フラグ
値 publisher
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