A rapid microarray based whole genome analysis for detection of uniparental disomy†
Özge Altug-Teber
Medizinische Genetik, Universitätsklinikum, Tübingen, Germany
Özge Altug-Teber and Andreas Dufke contributed equally to this work.
Search for more papers by this authorAndreas Dufke
Medizinische Genetik, Universitätsklinikum, Tübingen, Germany
Özge Altug-Teber and Andreas Dufke contributed equally to this work.
Search for more papers by this authorSven Poths
Medizinische Genetik, Universitätsklinikum, Tübingen, Germany
Search for more papers by this authorUlrike Angelika Mau-Holzmann
Medizinische Genetik, Universitätsklinikum, Tübingen, Germany
Search for more papers by this authorMurat Bastepe
Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts
Search for more papers by this authorLaurence Colleaux
INSERM U393, Hôpital Necker-Enfants Malades, Paris, France
Search for more papers by this authorValérie Cormier-Daire
INSERM U393, Hôpital Necker-Enfants Malades, Paris, France
Search for more papers by this authorThomas Eggermann
Institut für Humangenetik, Universität Aachen, Aachen, Germany
Search for more papers by this authorGabriele Gillessen-Kaesbach
Institut für Humangenetik, Universitätsklinikum, Essen, Germany
Search for more papers by this authorCorresponding Author
Michael Bonin
Medizinische Genetik, Universitätsklinikum, Tübingen, Germany
Medizinische Genetik, Universitätsklinikum Tübingen, Calwerstr. 7, 72076 Tübingen, GermanySearch for more papers by this authorCorresponding Author
Olaf Riess
Medizinische Genetik, Universitätsklinikum, Tübingen, Germany
Medizinische Genetik, Universitätsklinikum Tübingen, Calwerstr. 7, 72076 Tübingen, GermanySearch for more papers by this authorÖzge Altug-Teber
Medizinische Genetik, Universitätsklinikum, Tübingen, Germany
Özge Altug-Teber and Andreas Dufke contributed equally to this work.
Search for more papers by this authorAndreas Dufke
Medizinische Genetik, Universitätsklinikum, Tübingen, Germany
Özge Altug-Teber and Andreas Dufke contributed equally to this work.
Search for more papers by this authorSven Poths
Medizinische Genetik, Universitätsklinikum, Tübingen, Germany
Search for more papers by this authorUlrike Angelika Mau-Holzmann
Medizinische Genetik, Universitätsklinikum, Tübingen, Germany
Search for more papers by this authorMurat Bastepe
Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts
Search for more papers by this authorLaurence Colleaux
INSERM U393, Hôpital Necker-Enfants Malades, Paris, France
Search for more papers by this authorValérie Cormier-Daire
INSERM U393, Hôpital Necker-Enfants Malades, Paris, France
Search for more papers by this authorThomas Eggermann
Institut für Humangenetik, Universität Aachen, Aachen, Germany
Search for more papers by this authorGabriele Gillessen-Kaesbach
Institut für Humangenetik, Universitätsklinikum, Essen, Germany
Search for more papers by this authorCorresponding Author
Michael Bonin
Medizinische Genetik, Universitätsklinikum, Tübingen, Germany
Medizinische Genetik, Universitätsklinikum Tübingen, Calwerstr. 7, 72076 Tübingen, GermanySearch for more papers by this authorCorresponding Author
Olaf Riess
Medizinische Genetik, Universitätsklinikum, Tübingen, Germany
Medizinische Genetik, Universitätsklinikum Tübingen, Calwerstr. 7, 72076 Tübingen, GermanySearch for more papers by this authorCommunicated by Stylianos Antonarakis
Abstract
To date, uniparental disomy (UPD) with phenotypic relevance is described for different chromosomes and it is likely that additional as yet unidentified UPD phenotypes exist. Due to technical difficulties and limitations of time and resources, molecular analyses for UPD using microsatellite markers are only performed in cases with specific phenotypic features. In this study, we carried out a whole genome UPD screening based on a microarray genotyping technique. Six patients with the diagnosis of both complete or segmental UPD including Prader-Willi syndrome (PWS; matUPD15), Angelman syndrome (AS; patUPD15), Silver-Russell syndrome (SRS; matUPD7), Beckwith-Wiedemann syndrome (BWS; patUPD11p), pseudohypoparathyroidism (PHP; patUPD20q) and a rare chromosomal rearrangement (patUPD2p, matUPD2q), were genotyped using the GeneChip® Human Mapping 10K Array. Our results demonstrate the presence of UPD in the patients with high efficiency and reveal clues about the mechanisms of UPD formation. We thus conclude that array based SNP genotyping is a fast, cost-effective, and reliable approach for whole genome UPD screening. Hum Mutat 26(2), 1–7, 2005. © 2005 Wiley-Liss, Inc.
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