title: POD-FISH: a new technique for parental origin determination based on copy number variation polymorphism.
abstract: With the progress of array technologies and the enabled screening of individual human genomes, a new kind of polymorphism has been described - the so-called copy number variation (CNV) polymorphism. Copy number variants can be found in around 12% of the human genome sequence and have a size of up to several hundred kilobase pairs. These variants can not only differ between individuals, but also between corresponding alleles on homologous chromosomes. We recently developed a cytological assay for parental origin determination that relies on the design of CNV-based sets of probes for fluorescence in situ hybridization (POD-FISH). Here we describe an improved POD-FISH protocol that exploits "high frequency" variants for better discrimination of homologous chromosomes.
authors.affiliation: Institut für Humangenetik und Anthropologie, University of Jena, Jena, Germany. aweise@mti.uni-jena.de
authors.forename: Anja
authors.initials: A
authors.lastname: Weise
authors.forename: Madeleine
authors.initials: M
authors.lastname: Gross
authors.forename: Sophie
authors.initials: S
authors.lastname: Hinreiner
authors.forename: Vera
authors.initials: V
authors.lastname: Witthuhn
authors.forename: Hasmik
authors.initials: H
authors.lastname: Mkrtchyan
authors.forename: Thomas
authors.initials: T
authors.lastname: Liehr
mesh_terms: D056915:DNA Copy Number Variations / Q000235:genetics*; D005456:Fluorescent Dyes / Q000378:metabolism; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D009691:Nucleic Acid Denaturation; D010290:Parents
chemical_list: D005456:Fluorescent Dyes