Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13.
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.
Dittrich
B
B
Institut für Humangenetik, Universitätsklinikum Essen, Federal Republic of Germany.
Robinson
W P
WP
Knoblauch
H
H
Buiting
K
K
Schmidt
K
K
Gillessen-Kaesbach
G
G
Horsthemke
B
B
D000328:Adult; D017204:Angelman Syndrome / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D002884:Chromosomes, Human, Pair 15; D004247:DNA / Q000378:metabolism*; D006801:Humans; D008745:Methylation; D011110:Polymorphism, Genetic; D011218:Prader-Willi Syndrome / Q000175:diagnosis* / Q000235:genetics
D004247:DNA