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Σάββατο 21 Νοεμβρίου 2015

Feasibilty study on the use of methylation-specific MLPA for the 11p15 region on prenatal samples

What's already known about this topic?

  • A few publications describing prenatal diagnosis of BWS are known.
  • However, the methylation status of the 11p15 imprinted region in normal prenatal samples is not known. Such information is important for determining if regions or specific nucleotides are suitable for prenatal diagnosis.

What does this study add?

  • In postnatal diagnosis, methylation-specific MLPA is the most frequently used method for thediagnosis of Beckwith-Wiedemann and Silver-Russell syndrome. In the work presented here, the feasibility of such a ms-MLPA on prenatal samples from normal pregnancies is studied.


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