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本邦における優性遺伝性脊髄小脳変性症の頻度に対する分子遺伝学基盤
http://hdl.handle.net/10191/46033
http://hdl.handle.net/10191/4603369da7e32-b8b2-431a-ba62-49d69641aee0
名前 / ファイル | ライセンス | アクション |
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112(8)_452-464.pdf (2.1 MB)
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Item type | 紀要論文 / Departmental Bulletin Paper(1) | |||||
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公開日 | 2017-02-03 | |||||
タイトル | ||||||
タイトル | 本邦における優性遺伝性脊髄小脳変性症の頻度に対する分子遺伝学基盤 | |||||
タイトル | ||||||
タイトル | 本邦における優性遺伝性脊髄小脳変性症の頻度に対する分子遺伝学基盤 | |||||
言語 | en | |||||
言語 | ||||||
言語 | jpn | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | CAG repeat | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | polyglutamine | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | spinocerebellar ataxia | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | SCA | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | prevalence | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | intermediate allele | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | 脊髄小脳変性症 | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
資源タイプ | departmental bulletin paper | |||||
その他のタイトル | ||||||
その他のタイトル | Molecular Basis for the Prevalence Rates of the Dominantly Inherited Spinocerebellar Ataxias in Japanese. | |||||
著者 |
高野, 弘基
× 高野, 弘基 |
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著者別名 | ||||||
識別子Scheme | WEKO | |||||
識別子 | 104966 | |||||
姓名 | Takano, Hiroki | |||||
抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Expansions of CAG repeats have been identified as the causative mutations for 6 dominant spinocerebellar ataxias (SCAs) including spinocerebellar ataxia type 1 (SCA 1), SCA 2, Machado-Joseph disease (MJD)/SCA 3, SCA 6, SCA 7, and dentatorubralpallidoluysian atrophy (DRPLA). The prevalence rate of each of the dominant SCAs considerably differs among the ethnic backgrounds with DRPLA and SCA 6 being more frequent in Japanese than in Caucasian. The basis for the differences in the prevalence rates, however, have not been fully understood. We hypothesized that expanded alleles (AE) arise from the normal alleles (AN) with relatively large size of CAG rapeats, i.e. intermediate alleles (AI), and the prevalence rates are functions of the frequencies of AI in the popualtions. To test this hypothesis, we investigated the relative prevalence rates of the dominant SCAs in population based 202 Japanese and 177 Caucasian familes with dominant SCAs. The distributions of the size of CAG repeats on AN at the 5 loci of unrelated individuals in each population were also determined. The relative prevalence rates of SCA 1 and SCA 2 were significantly higher in Caucasian (15 and 14 %, respectively) than in Japanese (3 and 5 %, respectively) (SCA 1 ; χ^2=13.58, df=1, P=0.0002, SCA 2 ; χ^2=8.41, df=1, P=0.0037). The relative prevalence rates of MJD/SCA 3, SCA 6, and DRPLA were significantly higher in Japanese (42, 11, and 20 %, respectively) than in Caucasian (30, 5, and 0 %, respectively) (MJD/SCA 3 ; χ^2=5.05, df=1, P=0.024, SCA 6 ; χ^2=5.05, df=1, P=0.015, DRPLA ; χ^2=38.21, df=1, P<0.0001). The frequencies of AI of SCA 1 (alleles>30 repeats) and SCA 2 (alleles>22 repeat) were significantly over-represented in Caucasian compared to Japanese (SCAI ; χ^2=22.23, df=1, P<0.0001, SCA 2 ; χ^2=14.84, df=1, P=0.0001), which was in good accordance with the higher ralative prevalence rates of SCA 1 and SCA 2 in Caucasian than in Japanese. The frequencies of AI of MJD/SCA 3 (>27 repeats), SCA 6 (>13 repeats), and DRPLA (>17 repeats) were significantly higher in Japanese than in Caucasian (MJD/SCA 3 ; χ^2=21.16, df=1, P<0.0001, SCA 6 ; χ^2=38.64, df=1, P<0.0001, DRPLA ; χ^2=11.80, df=1, P=0.0006), which was also in accordance with the higher relative prevalence rates of MJD/SCA 3, SCA 6, and DRPLA in Japanese than in Caucasian. Our analyses demonstrated that the differences in the relative prevalence rates of the dominant SCAs were tightly associated with the differences in the frequencies of the AI between Japanese and Caucasian populations. | |||||
書誌情報 |
新潟医学会雑誌 en : 新潟医学会雑誌 巻 112, 号 8, p. 452-464, 発行日 1998-08 |
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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 |