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Research identifies unrecognized low frequency mutations in breeds

Mark Billadeau

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This was posted on Terrierman; it's interesting and cutting edge genetic research from the group in Finland which is continuing the research on EAOD in Border Collies funded by the HEF and supported by samples submitted by our community. This is posted to provide everyone some idea of the breadth and quality of research being conducted by this group.

Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders
August 15, 2016 PLOS


Every breed carries mutations. The frequency of some of these mutations are high enough that carriers get bred to one another producing affected dogs. When enough affected dogs are produced, breeders recognize the disease is genetically linked. What this research demonstrates is that along with the recognized mutations there are unrecognized mutations present in every breed; the low frequencies of these mutations generally means that two carriers will rarely be crossed and very few affected dogs are produced. However, the likelihood of crossing two carriers of unrecognized mutations increases significantly when we breed two closely related dogs. It is a monumental task to identify every low frequency mutation present within the dog genome.


Our best defense against producing dogs affected by genetically linked diseases is to breed for as much genetic diversity as possible and to use genetic testing for mutations known (or suspected) to be present in the dogs that will be crossed.

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