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  Counting CAG repeats in the Huntington’s disease gene by restriction endonuclease EcoP15I cleavage

Möncke-Buchner, E., Reich, S., Mücke, M., Reuter, M., Messer, W., Wanker, E., et al. (2002). Counting CAG repeats in the Huntington’s disease gene by restriction endonuclease EcoP15I cleavage. Nucleic Acids Research, 30(16), e83-e83.

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Item Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-8BC8-8 Version Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-8BC9-6
Genre: Journal Article
Alternative Title : NAR

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 Creators:
Möncke-Buchner, Elisabeth, Author
Reich, Stefanie, Author
Mücke, Merlind, Author
Reuter, Monika, Author
Messer, Walter1, Author
Wanker, Erich1, Author
Krüger, Detlev H., Author
Affiliations:
1Max Planck Society, ou_persistent13              

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 Abstract: Huntington’s disease (HD) is a progressive neurodegenerative disorder with autosomal-dominant inheritance. The disease is caused by a CAG trinucleotide repeat expansion located in the first exon of the HD gene. The CAG repeat is highly polymorphic and varies from 6 to 37 repeats on chromosomes of unaffected individuals and from more than 30 to 180 repeats on chromosomes of HD patients. In this study, we show that the number of CAG repeats in the HD gene can be determined by restriction of the DNA with the endonuclease EcoP15I and subsequent analysis of the restriction fragment pattern by electrophoresis through non-denaturing polyacrylamide gels using the ALFexpress DNA Analysis System. CAG repeat numbers in the normal (30 and 35 repeats) as well as in the pathological range (81 repeats) could be accurately counted using this assay. Our results suggest that this high-resolution method can be used for the exact length determination of CAG repeats in HD genes as well as in genes affected in related CAG repeat disorders.

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Language(s): eng - English
 Dates: 2002-08-15
 Publication Status: Issued
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: eDoc: 27846
 Degree: -

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Title: Nucleic Acids Research
  Alternative Title : NAR
Source Genre: Journal
 Creator(s):
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Publ. Info: -
Pages: - Volume / Issue: 30 (16) Sequence Number: - Start / End Page: e83 - e83 Identifier: -