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Journal of Heredity Advance Access published online on June 15, 2005
Journal of Heredity, doi:10.1093/jhered/esi074
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© The American Genetic Association. 2005. All rights reserved. For Permissions, please email: journals.permissions@oupjournals.org.

Article

Inherited Occipital Hypoplasia/Syringomyelia in the Cavalier King Charles Spaniel: Experiences in Setting Up a Worldwide DNA Collection

Clare Rusbridge 1*, Penny Knowler 1, Guy A. Rouleau 2, Berge A. Minassian 3, and Jan Rothuizen 4

1 From the Stone Lion Veterinary Centre, 41 High Street, Wimbledon, SW19 5AU United Kingdom
2 Neurogenetic Laboratory, McGill University Health Centre Research Institute, Room L7-2241650, Cedar avenue, Montreal (Quebec) Canada H3G 1A4
3 Division of Neurology and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada M5G 1X8
4 Department of Clinical Sciences of Companion Animals, Faculty of Veterinary Medicine, University Utrecht, PO BOX 80154, 3508 TD Utrecht, The Netherlands

* To whom correspondence should be addressed.
Clare Rusbridge, E-mail: neuro.vet{at}btinternet.com


  Abstract

Inherited diseases commonly emerge within pedigree dog populations, often due to use of repeatedly bred carrier sire(s) within a small gene pool. Accurate family records are usually available making linkage analysis possible. However, there are many factors that are intrinsically difficult about collecting DNA and collating pedigree information from a large canine population. The keys to a successful DNA collection program include (1) the need to establish and maintain support from the pedigree breed clubs and pet owners; (2) committed individual(s) who can devote the considerable amount of time and energy to coordinating sample collection and communicating with breeders and clubs; and (3) providing means by which genotypic and phenotypic information can be easily collected and stored. In this article we described the clinical characteristics of inherited occipital hypoplasia/syringomyelia (Chiari type I malformation) in the cavalier King Charles spaniel and our experiences in establishing a pedigree and DNA database to study the disease.


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