POD-FISH: a new technique for parental origin determination based on copy number variation polymorphism.
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.
Weise
Anja
A
Institut für Humangenetik und Anthropologie, University of Jena, Jena, Germany. aweise@mti.uni-jena.de
Gross
Madeleine
M
Hinreiner
Sophie
S
Witthuhn
Vera
V
Mkrtchyan
Hasmik
H
Liehr
Thomas
T
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
D005456:Fluorescent Dyes