title: A multiplex molecular assay for the detection of uniparental disomy for human chromosome 15.
abstract: Uniparental disomy (UPD) describes the inheritance of both homologues of a pair of chromosomes from only one parent. During the last two decades, the clinical impact of UPD and associated imprinting disorders, such as Prader-Willi syndrome (PWS) and Angelman syndrome (AS) increasingly have come to our attention. About 25% of PWS and 3%-5% of AS are a consequence of UPD with the resulting phenotype generated from the parent of origin of the disomic pair of chromosomes 15. Chromosome 15 UPD testing is relevant in various prenatal diagnostic conditions including apparent confined placental mosaicism, homologous and nonhomologous Robertsonian translocations involving chromosome 15 and 14, and as genomic biomarker for detecting chromosome origin. In this work we developed and validated a two fluorescent STRs multiplex assay for a rapid, economic and fully informative detection of UPD 15 by capillary electrophoresis.
authors.affiliation: Department of Biopathology, Centre of Excellence for Genomic risk Assessment in Multifactorial and Complex Diseases, School of Medicine, University of Rome Tor Vergata, Italy. emiliano.giardina@uniroma2.it
authors.forename: Emiliano
authors.initials: E
authors.lastname: Giardina
authors.forename: Cristina
authors.initials: C
authors.lastname: Peconi
authors.forename: Raffaella
authors.initials: R
authors.lastname: Cascella
authors.forename: Cecilia
authors.initials: C
authors.lastname: Sinibaldi
authors.forename: Anna Maria
authors.initials: AM
authors.lastname: Nardone
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Novelli
mesh_terms: D000483:Alleles; D017204:Angelman Syndrome / Q000175:diagnosis / Q000235:genetics; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D019075:Electrophoresis, Capillary / Q000379:methods*; D005260:Female; D005787:Gene Frequency; D006579:Heterozygote; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D016133:Polymerase Chain Reaction / Q000379:methods*; D011218:Prader-Willi Syndrome / Q000175:diagnosis / Q000235:genetics; D011247:Pregnancy; D024182:Uniparental Disomy / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D004247:DNA