Detection of Large Expansions in SCA8 Using a Fluorescent Repeat-Primed PCR Assay
Hiroshima Journal of Medical Sciences Volume 60 Issue 3
Page 63-66
published_at 2011-09
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| File | |
| Title ( eng ) |
Detection of Large Expansions in SCA8 Using a Fluorescent Repeat-Primed PCR Assay
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| Creator |
Tanaka Eiji
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| Source Title |
Hiroshima Journal of Medical Sciences
|
| Volume | 60 |
| Issue | 3 |
| Start Page | 63 |
| End Page | 66 |
| Journal Identifire |
[PISSN] 0018-2052
[EISSN] 2433-7668
[NCID] AA00664312
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| Abstract |
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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| Keywords |
SCA8
Repeat-Primed PCR
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| NDC |
Medical sciences [ 490 ]
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| Language |
eng
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| Resource Type | departmental bulletin paper |
| Publisher |
Hiroshima University Medical Press
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| Date of Issued | 2011-09 |
| Rights |
(c) Hiroshima University Medical Press.
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| Publish Type | Version of Record |
| Access Rights | open access |
| Source Identifier |
[ISSN] 0018-2052
[NCID] AA00664312
|
