In vitro reactivation of the FMR1 gene involved in fragile X syndrome.

@article{Chiurazzi1998InVR,
  title={In vitro reactivation of the FMR1 gene involved in fragile X syndrome.},
  author={Pietro Chiurazzi and Maria Grazia Pomponi and Rob Willemsen and Ben A. Oostra and Giovanni Neri},
  journal={Human molecular genetics},
  year={1998},
  volume={7 1},
  pages={109-13}
}
Fragile X syndrome is the most frequent cause of heritable mental retardation. Most patients have a mutation in the 5' untranslated region of the FMR1 gene, consisting of the amplification of a polymorphic (CGG)nrepeat sequence, and cytogenetically express the folate-sensitive fragile site FRAXA in Xq27.3. Fragile X patients harbour an expanded sequence with >200 CGG repeats (full mutation), accompanied by methylation of most cytosines of the sequence itself and of the upstream CpG island. This… CONTINUE READING