Large CAG/CTG repeat templates produced by PCR, usefulness for the DIRECT method of cloning genes with CAG/CTG repeat expansions

M. A. Pujana, V. Volpini, Xavier P. Estivill

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We report here a simple method for generating large CAG/CTG repeat sequences. We have applied this method to clone the genomic sequence containing the CAG/CTG repeat and its upstream intronic sequence present in spinocerebellar ataxia type 3 or Machado-Joseph disease (SCA3/MJD) by a modified DIRECT method. With these modifications we have considerably simplified the generation of the repeat probe used to screen for anomalous bands. This method will facilitate the molecular approach to other genetic disorders where expansions of repeat sequences could be involved.

Original languageEnglish
Pages (from-to)1352-1353
Number of pages2
JournalNucleic Acids Research
Issue number5
Publication statusPublished - 1 Mar 1998
Externally publishedYes


ASJC Scopus subject areas

  • Genetics

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