Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13

Hum Genet. 1992 Nov;90(3):313-5. doi: 10.1007/BF00220089.

Abstract

The Prader-Willi syndrome (PWS) and the Angelman syndrome (AS) are distinct genetic disorders that are caused by a deletion of chromosome region 15q11-13 or by uniparental disomy for chromosome 15. Whereas PWS results from the absence of a paternal copy of 15q11-13, the absence of a maternal copy of 15q11-13 leads to AS. We have found that an MspI/HpaII restriction site at the D15S63 locus in 15q11-13 is methylated on the maternally derived chromosome, but unmethylated on the paternally derived chromosome. Based on this difference, we have devised a rapid diagnostic test for patients suspected of having PWS and AS.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Angelman Syndrome / diagnosis*
  • Angelman Syndrome / genetics
  • Child
  • Chromosomes, Human, Pair 15*
  • DNA / metabolism*
  • Humans
  • Methylation
  • Polymorphism, Genetic
  • Prader-Willi Syndrome / diagnosis*
  • Prader-Willi Syndrome / genetics

Substances

  • DNA