title: A rapid microarray based whole genome analysis for detection of uniparental disomy.
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.
authors.affiliation: Medizinische Genetik, Universitätsklinikum, Tübingen, Germany.
authors.forename: Ozge
authors.initials: O
authors.lastname: Altug-Teber
authors.forename: Andreas
authors.initials: A
authors.lastname: Dufke
authors.forename: Sven
authors.initials: S
authors.lastname: Poths
authors.forename: Ulrike Angelika
authors.initials: UA
authors.lastname: Mau-Holzmann
authors.forename: Murat
authors.initials: M
authors.lastname: Bastepe
authors.forename: Laurence
authors.initials: L
authors.lastname: Colleaux
authors.forename: Valérie
authors.initials: V
authors.lastname: Cormier-Daire
authors.forename: Thomas
authors.initials: T
authors.lastname: Eggermann
authors.forename: Gabriele
authors.initials: G
authors.lastname: Gillessen-Kaesbach
authors.forename: Michael
authors.initials: M
authors.lastname: Bonin
authors.forename: Olaf
authors.initials: O
authors.lastname: Riess
mesh_terms: D017204:Angelman Syndrome / Q000235:genetics; D001506:Beckwith-Wiedemann Syndrome / Q000235:genetics; D005260:Female; D005819:Genetic Markers; D005821:Genetic Techniques; D015894:Genome, Human; D006801:Humans; D008297:Male; D025202:Molecular Diagnostic Techniques; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D011218:Prader-Willi Syndrome / Q000235:genetics; D017422:Sequence Analysis, DNA; D013997:Time Factors; D024182:Uniparental Disomy / Q000235:genetics*
chemical_list: D005819:Genetic Markers