title: A multiplex molecular assay for the detection of uniparental disomy for human chromosome 7.
abstract: Uniparental disomy (UPD) describes the inheritance of both homologues of a pair of chromosomes from only one parent. This condition is often caused by nondisjunction events during meiosis. UPD has been reported as a rare cause of the autosomal recessive disorder and aberrant expression of imprinted genes that are expressed from only one parental allele, either maternal or paternal. Maternal and/or paternal UPD for chromosome 7 is the most frequently observed UPD after UPD15. Here we developed and validated, for the first time, an effective, CE-based method for a rapid and economic detection based on two-fluorescent STR multiplexes.
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: Valeria
authors.initials: V
authors.lastname: Foti Cuzzola
authors.forename: Anna Maria
authors.initials: AM
authors.lastname: Nardone
authors.forename: Placido
authors.initials: P
authors.lastname: Bramanti
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Novelli
mesh_terms: D000653:Amniotic Fluid / Q000737:chemistry; D002897:Chromosomes, Human, Pair 7; D004247:DNA / Q000097:blood / Q000235:genetics; D019075:Electrophoresis, Capillary / Q000379:methods*; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D018895:Microsatellite Repeats; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D013577:Syndrome; D024182:Uniparental Disomy
chemical_list: D005819:Genetic Markers; D004247:DNA