Detection of Large Expansions in SCA8 Using a Fluorescent Repeat-Primed PCR Assay
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ID | 34997 |
本文ファイル | |
著者 |
Tanaka, Eiji
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キーワード | SCA8
Repeat-Primed PCR
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NDC |
医学
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抄録(英) | Spinocerebellar ataxia type 8 (SCA8) is a neurodegenerative disorder characterized by slowly progressive cerebellar ataxia. It is caused by bidirectional expression of (CUG)n expansion in the ATXN8OS/ATXN8 gene and (CAG)n expansion transcripts in ATXN8. The diagnosis of SCA8 must be confirmed by the presence of a (CTG)n trinucleotide repeat expansion in the ATXN8OS gene. On the other hand, there are many human genetic diseases that are caused by expansion of short tandem repeats. Since Werner et al proposed a repeat-primed fluorescent PCR to detect large CTG-repeats in myotonic dystrophy, Friedreich ataxia, SCA2, SCA7, SCA10 and SCA12 have been reported. In this study, we applied a fluorescent PCR method for detection of expanded repeats in the ATXN8OS/ATXN8 gene. Although this test cannot give a precise estimate of the size of the expansion, it proved useful for confirming the presence of expansions in SCA8.
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掲載誌名 |
Hiroshima Journal of Medical Sciences
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巻 | 60巻
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号 | 3号
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開始ページ | 63
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終了ページ | 66
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出版年月日 | 2011-09
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出版者 | Hiroshima University Medical Press
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ISSN | 0018-2052
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NCID | |
言語 |
英語
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NII資源タイプ |
紀要論文
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広大資料タイプ |
学内刊行物(紀要等)
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DCMIタイプ | text
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フォーマット | application/pdf
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著者版フラグ | publisher
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権利情報 | (c) Hiroshima University Medical Press.
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部局名 |
医歯薬学総合研究科
原爆放射線医科学研究所
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他の一覧 |