Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13 |
| |
Authors: | Bärbel Dittrich Wendy P. Robinson Hans Knoblauch Karin Buiting Kerstin Schmidt Gabriele Gillessen-Kaesbach Bernhard Horsthemke |
| |
Affiliation: | (1) Institut für Humangenetik, Universitätsklinikum Essen, W-4300, Essen 1, Federal Republic of Germany;(2) Institut für Medizinische Genetik, Universität Zürich, CH-8001 Zürich, Switzerland;(3) Institut für Humangenetik, Universität Berlin, W-1000, Berlin 19, Federal Republic of Germany;(4) Institut für Humangenetik, Universitätsklinikum Essen, Hufelandstrasse 55, W-4300, 1 Essen, Federal Republic of Germany |
| |
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. |
| |
Keywords: | |
本文献已被 SpringerLink 等数据库收录! |
|