POD-FISH: A New Technique for Parental Origin Determination Based on Copy Number Variation Polymorphism

  • Anja WeiseEmail author
  • Madeleine Gross
  • Sophie Hinreiner
  • Vera Witthuhn
  • Hasmik Mkrtchyan
  • Thomas Liehr
Part of the Methods in Molecular Biology book series (MIMB, volume 659)


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.

Key words

Parental origin determination fluorescence in situ hybridization Copy number variation Homologues Chromosomes Bacterial artificial chromosome 



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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Copyright information

© Springer Science+Business Media, LLC 2010

Authors and Affiliations

  • Anja Weise
    • 1
    Email author
  • Madeleine Gross
    • 2
  • Sophie Hinreiner
    • 1
  • Vera Witthuhn
    • 1
  • Hasmik Mkrtchyan
    • 2
  • Thomas Liehr
    • 1
  1. 1.Institut für Humangenetik und AnthropologieUniversity of JenaJenaGermany
  2. 2.Institut für HumangenetikUniversity of JenaJenaGermany

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