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

✍ Scribed by Bärbel Dittrich; Wendy P. Robinson; Hans Knoblauch; Karin Buiting; Kerstin Schmidt; Gabriele Gillessen-Kaesbach; Bernhard Horsthemke

Book ID
104669451
Publisher
Springer
Year
1992
Tongue
English
Weight
247 KB
Volume
90
Category
Article
ISSN
0340-6717

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✦ Synopsis

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.

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