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Exclusion of DNA changes in the β–subunit of the c–GMP phosphodiesterase gene as the cause for Huntington's disease

Nature Genetics volume 1, pages 104–108 (1992)Cite this article

Abstract

To identify expressed sequences within candidate regions for the Huntington's disease (HD) gene in 4p16.3, we isolated the gene encoding the β subunit of the human cGMP phosphodiesterase (PDEB). We formally assessed this as a candidate gene for HD based on it's expression in brain, the demonstration of linkage disequilibrium between intragenic DNA markers and HD, and the demonstration that mice with a mutation in this gene have a reduction of neurons in particular brain regions. We investigated all 22 exons of PDEB and 5′–flanking region for point mutations in 16 HD patients of different ethnic origins using single strand conformational polymorphism analysis. The underlying DNA changes found initially exclusively in HD patients were excluded as the cause for HD.

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Authors and Affiliations

  1. Department of Medical Genetics, University of British Columbia, Vancouver, BC, V6T 1Z4, Canada

    Olaf Riess, Colin Collins, Diana Mah, Bernhard Weber & Michael R. Hayden

  2. Institute of Medical Genetics, University of Copenhagen, Blegdamsvej 3, DK-2200, KbhN, Denmark

    Anne Noerremoelle

Authors
  1. Olaf Riess
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  2. Anne Noerremoelle
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  3. Colin Collins
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  4. Diana Mah
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  5. Bernhard Weber
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  6. Michael R. Hayden
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Riess, O., Noerremoelle, A., Collins, C. et al. Exclusion of DNA changes in the β–subunit of the c–GMP phosphodiesterase gene as the cause for Huntington's disease. Nat Genet 1, 104–108 (1992). https://doi.org/10.1038/ng0592-104

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