4.5 Article

A population study of a mutation allele associated with cone-rod dystrophy in the standard wire-haired dachshund

Journal

ANIMAL GENETICS
Volume 40, Issue 4, Pages 572-574

Publisher

WILEY-BLACKWELL PUBLISHING, INC
DOI: 10.1111/j.1365-2052.2009.01877.x

Keywords

age of mutation; cone-rod dystrophy; NPHP4; standard wire-haired dachshund

Funding

  1. Norwegian School of Veterinary Science
  2. EURYI award
  3. Swedish MRC
  4. Foundation for Strategic Research

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P>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.

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