Methylation-specific multiplex ligation-dependent probe amplification and identification of deletion genetic subtypes in Prader-Willi syndrome.

@article{Henkhaus2012MethylationspecificML,
  title={Methylation-specific multiplex ligation-dependent probe amplification and identification of deletion genetic subtypes in Prader-Willi syndrome.},
  author={Rebecca S. Henkhaus and Soo-jeong Kim and Virginia Kimonis and June-Anne Gold and Elisabeth M. Dykens and Daniel J. Driscoll and Merlin G. Butler},
  journal={Genetic testing and molecular biomarkers},
  year={2012},
  volume={16 3},
  pages={178-86}
}
PURPOSE Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are complex neurodevelopmental disorders caused by loss of expression of imprinted genes from the 15q11-q13 region depending on the parent of origin. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) kits from MRC-Holland (Amsterdam, The Netherlands) were used to detect PWS and AS deletion subtypes. We report our experience with two versions of the MS-MLPA-PWS/AS kit (original A1 and newer B1) in… CONTINUE READING