Prader-Willi and Angelman syndromes: diagnosis with a bisulfite-treated methylation-specific PCR method.

@article{Kosaki1997PraderWilliAA,
  title={Prader-Willi and Angelman syndromes: diagnosis with a bisulfite-treated methylation-specific PCR method.},
  author={Kenjiro Kosaki and Matthew J Mcginniss and Alexey Veraksa and William J. McGinnis and Kenneth Lyons Jones},
  journal={American journal of medical genetics},
  year={1997},
  volume={73 3},
  pages={308-13}
}
The putative promoter region of the SNRPN gene contains a CpG island which is heavily methylated in the maternally derived allele and unmethylated in the paternally derived allele. In patients with Prader-Willi syndrome (PWS) only the methylated allele is present, while in those with Angelman syndrome (AS) only the unmethylated allele is present. The purpose of this paper is to report a polymerase chain reaction (PCR)-based assay to evaluate methylation status of the CpG island of the SNRPN… CONTINUE READING

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