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.
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Acknowledgments
Supported in parts by the DFG (436 RUS 17/109/04, 436 RUS 17/22/06, WE 3617/2-1, 436 ARM 17/5/06, LI820/11-1, LI820/17-1), Boehringer Ingelheim Fonds, Evangelische Studienwerk e.V. Villigst, IZKF Jena (Start-up S16), IZKF together with the TMWFK (TP 3.7 and B307-04004), University Jena, Stiftung Leukämie, and Stefan-Morsch-Stiftung.
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Weise, A., Gross, M., Hinreiner, S., Witthuhn, V., Mkrtchyan, H., Liehr, T. (2010). POD-FISH: A New Technique for Parental Origin Determination Based on Copy Number Variation Polymorphism. In: Bridger, J., Volpi, E. (eds) Fluorescence in situ Hybridization (FISH). Methods in Molecular Biology, vol 659. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-60761-789-1_22
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DOI: https://doi.org/10.1007/978-1-60761-789-1_22
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