WEKO3
アイテム
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To identify elements affecting the intergenerational instability of the CAG repeat, we investigated whether the CGG/GGG polymorphism at the 3\u0027 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. 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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/10191/455140be01cd1-8989-4aae-af32-b8e5f6af70b0
名前 / ファイル | ライセンス | アクション |
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Item type | 紀要論文 / Departmental Bulletin Paper(1) | |||||
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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 |
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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 |
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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 |