Ma. Pujana et al., LARGE CAG CTG REPEAT TEMPLATES PRODUCED BY PCR, USEFULNESS FOR THE DIRECT METHOD OF CLONING GENES WITH CAG/CTG REPEAT EXPANSIONS/, Nucleic acids research, 26(5), 1998, pp. 1352-1353
We report here a simple method for generating large CAG/CTG repeat seq
uences, We have applied this method to clone the genomic sequence cont
aining the CAG/CTG repeat and its upstream intronic sequence present i
n spinocerebellar ataxia type 3 or Machado-Joseph disease (SCA3/MJD) b
y a modified DIRECT method, With these modifications we have considera
bly simplified the generation of the repeat probe used to screen for a
nomalous bands. This method will facilitate the molecular approach to
other genetic disorders where expansions of repeat sequences could be
involved.