Detection of Large Expansions in SCA8 Using a Fluorescent Repeat-Primed PCR Assay

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タイトル ( eng )
Detection of Large Expansions in SCA8 Using a Fluorescent Repeat-Primed PCR Assay
作成者
Tanaka Eiji
収録物名
Hiroshima Journal of Medical Sciences
60
3
開始ページ 63
終了ページ 66
収録物識別子
[PISSN] 0018-2052
[EISSN] 2433-7668
[NCID] AA00664312
抄録
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.
著者キーワード
SCA8
Repeat-Primed PCR
NDC分類
医学 [ 490 ]
言語
英語
資源タイプ 紀要論文
出版者
Hiroshima University Medical Press
発行日 2011-09
権利情報
(c) Hiroshima University Medical Press.
出版タイプ Version of Record(出版社版。早期公開を含む)
アクセス権 オープンアクセス
収録物識別子
[ISSN] 0018-2052
[NCID] AA00664312