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An expanded CAG rep...
An expanded CAG repeat sequence in spinocerebellar ataxia type 7
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Lindblad, K (author)
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Savontaus, ML (author)
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Stevanin, G (author)
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Holmberg, M (author)
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Digre, K (author)
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Zander, C (author)
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- Ehrsson, HH (author)
- Karolinska Institutet
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David, G (author)
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Benomar, A (author)
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Nikoskelainen, E (author)
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Trottier, Y (author)
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Holmgren, G (author)
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Ptacek, LJ (author)
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Anttinen, A (author)
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Brice, A (author)
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- Schalling, M (author)
- Karolinska Institutet
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(creator_code:org_t)
- 1996-10-01
- 1996
- English.
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In: Genome research. - : Cold Spring Harbor Laboratory. - 1088-9051. ; 6:10, s. 965-971
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http://genome.cshlp....
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http://kipublication...
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https://doi.org/10.1...
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Abstract
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- Expanded CAG repeat sequences have been identified in the coding region of genes mutated in several neurodegenerative disorders, including spinocerebellar ataxia type 1 and Machado-Joseph disease. In all disorders described to date the CAG expansion codes for an elongated polyglutamine chain. An increased polyglutamine chain size leads to a more severe disease, thus correlating with the genetic anticipation seen in repeat expansion disorders. Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant spinocerebellar ataxia with anticipation and a progressive degeneration of the cerebellar cortex. Using repeat expansion detection (RED), a method in which a thermostable ligase is used to detect repeat expansions directly from genomic DNA, we have analyzed 8 SCA7 families for the presence of CAG repeat expansions. RED products of 150-240 bp were found in all affected individuals and found to cosegregate with the disease (P < 0.000001, n = 66), indicating strongly that a CAG expansion is the cause of SCA7. On the basis of a previously established correlation between RED product sizes and actual repeat sizes in Machado-Joseph disease, we were able to estimate the average expansion size in SCA7 to be 64 CAG copies.
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- ref (subject category)
- art (subject category)
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- By the author/editor
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Lindblad, K
-
Savontaus, ML
-
Stevanin, G
-
Holmberg, M
-
Digre, K
-
Zander, C
-
show more...
-
Ehrsson, HH
-
David, G
-
Benomar, A
-
Nikoskelainen, E
-
Trottier, Y
-
Holmgren, G
-
Ptacek, LJ
-
Anttinen, A
-
Brice, A
-
Schalling, M
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show less...
- Articles in the publication
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Genome research
- By the university
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Karolinska Institutet