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Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects


Schulze,  B.
Department Biogeochemical Processes, Prof. E.-D. Schulze, Max Planck Institute for Biogeochemistry, Max Planck Society;

Horn,  D.
AG Deussing, Jan, Florian Holsboer (Direktor), Max Planck Institute of Psychiatry, Max Planck Society;

Becker,  C.
Department Ecophysiology, Max Planck Institute for Limnology, Max Planck Institute for Evolutionary Biology, Max Planck Society;

Mundlos,  S.
Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society;
Institute for Medical Genetics, Charité University Medicine Berlin;

Hoffmann,  K.
Research Group Marlow, Max-Planck-Institut für Kohlenforschung, Max Planck Society;

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Arelin, M., Schulze, B., Muller-Myhsok, B., Horn, D., Diers, A., Uhlenberg, B., et al. (2013). Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects. European journal og human genetics: EJHG; the official journal of the European Society of Human Genetics, 21(4), 367-372. doi:10.1038/ejhg.2012.198.

Genome-wide linkage analysis is an established tool to map inherited diseases. To our knowledge it has not been used in prenatal diagnostics of any genetic disorder. We present a family with a severe recessive mental retardation syndrome, where the mother wished pregnancy termination to avoid delivering another affected child. By genome-wide scanning using the Affymetrix (Santa Clara, CA, USA) 10k chip we were able to establish the disease haplotype. Without knowing the exact genetic defect, we excluded the condition in the fetus. The woman finally gave birth to a healthy baby. We suggest that genome-wide linkage analysis - based on either SNP mapping or full-genome sequencing - is a very useful tool in prenatal diagnostics of diseases.