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DNA testing: diagnosing and preventing inherited disorders in dogs
  1. Cathryn Mellersh, PhD
  1. Head of Canine Genetics, Animal Health Trust, Lanwades Park, Kentford, Newmarket, Suffolk CB8 7UU, UK
  1. E-mail: cathryn.mellersh{at}

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IT IS 20 years since Suber and co-workers identified the mutation responsible for a very early onset form of progressive retinal atrophy (PRA) in the Irish setter (Suber and others 1993) and since the first test for canine DNA to be widely used by breeders to reduce the prevalence of an inherited disorder was developed. DNA test development has evolved considerably in the past two decades – over 120 different breeds of dog can now take advantage of at least one DNA test, with some breeds having several different tests at their disposal. Before 2004, when a $30 million project funded by the National Human Genome Research Institute in the United States to sequence the entire dog genome was completed and the results made publicly available, finding canine disease mutations was a long and tedious process. In the absence of reliable genetic maps, let alone the complete genomic sequence, the only sensible route to mutation identification was via candidate gene analysis. Scientists investigating a particular inherited disorder would make a short list of genes that were reasonable candidates, based on their known function or association with clinically similar conditions in other species, and sequence the gene in affected and unaffected dogs in the hope of finding the causal mutation. Each gene would take at least …

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