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

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.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-000E-F27E-1 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0018-84D1-7
Genre: Journal Article

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© 2013 European Society of Human Genetics
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 Creators:
Arelin, M., Author
Schulze, B.1, Author              
Muller-Myhsok, B., Author
Horn, D.2, Author              
Diers, A., Author
Uhlenberg, B., Author
Nurnberg, P., Author
Nurnberg, G., Author
Becker, C.3, Author              
Mundlos, S.4, 5, Author              
Lindner, T. H., Author
Sperling, K., Author
Hoffmann, K.6, Author              
Affiliations:
1Department Biogeochemical Processes, Prof. E.-D. Schulze, Max Planck Institute for Biogeochemistry, Max Planck Society, Jena, Germany, ou_1497751              
2AG Deussing, Jan, Florian Holsboer (Direktor), Max Planck Institute of Psychiatry, Max Planck Society, München, Germany, ou_1607145              
3Department Ecophysiology, Max Planck Institute for Limnology, Max Planck Institute for Evolutionary Biology, Max Planck Society, Plöhn, Germany, ou_976547              
4Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, Berlin, Germany, ou_1433557              
5Institute for Medical Genetics, Charité University Medicine Berlin, Berlin, Germany, ou_persistent22              
6Research Group Marlow, Max-Planck-Institut für Kohlenforschung, Max Planck Society, Mülheim, Germany, ou_1445612              

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 Abstract: 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.

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Language(s): eng - English
 Dates: 2013-04
 Publication Status: Published in print
 Pages: -
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 Table of Contents: -
 Rev. Method: Peer
 Identifiers: DOI: 10.1038/ejhg.2012.198
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Title: European journal og human genetics : EJHG ; the official journal of the European Society of Human Genetics
  Other : Eur J Hum Genet
Source Genre: Journal
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Publ. Info: Basel : Karger
Pages: - Volume / Issue: 21 (4) Sequence Number: - Start / End Page: 367 - 372 Identifier: ISSN: 1018-4813
CoNE: /journals/resource/954925585277_2