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A population study of a mutation allele associated with cone-rod dystrophy in the standard wire-haired dachshund
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Biochemistry and Microbiology.
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2009 (English)In: Animal Genetics, ISSN 0268-9146, E-ISSN 1365-2052, Vol. 40, no 4, 572-574 p.Article in journal (Refereed) Published
Abstract [en]

Cone-rod dystrophy in the standard wire-haired dachshund (SWHD) is inherited as a simple autosomal recessive trait and the recently discovered mutation is widespread within the SWHD population in Norway and other Scandinavian countries. The gene frequency was estimated to be 4.8%. On the basis of the assumption that the size of the ancestral haplotype around a mutation is inversely correlated with the number of generations since the mutation arose, we have found that the mutation is of a relatively recent origin. The conserved haplotype was found to be 8 Mb in size and therefore we estimate that the mutation arose roughly eight generations (approximately 37 years) ago. This indicates that the mutation arose after breed separation.

Place, publisher, year, edition, pages
2009. Vol. 40, no 4, 572-574 p.
Keyword [en]
age of mutation, cone-rod dystrophy, NPHP4, standard wire-haired dachshund
National Category
Biological Sciences
URN: urn:nbn:se:uu:diva-119844DOI: 10.1111/j.1365-2052.2009.01877.xISI: 000268028100029PubMedID: 19392817OAI: oai:DiVA.org:uu-119844DiVA: diva2:301048
Available from: 2010-03-02 Created: 2010-03-02 Last updated: 2011-06-28Bibliographically approved

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Lindblad-Toh, Kerstin
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