Inherited occipital hypoplasia/syringomyelia in the cavalier king charles spaniel: Experiences in setting up a worldwide DNA collection

Clare Rusbridge, Penny Knowler, Guy A. Rouleau, Berge A. Minassian, Jan Rothuizen

Research output: Contribution to journalArticle

27 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)745-749
Number of pages5
JournalJournal of Heredity
Volume96
Issue number7
DOIs
StatePublished - Nov 1 2005

ASJC Scopus subject areas

  • Biotechnology
  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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