Frequencies of Genetic Disease Mutations by Dog Breed
A knowledge and understanding of mutation frequencies for genetic diseases found within and between dog breeds is a prerequisite for conscientious breeders and veterinarians wishing to make sustainable breeding and informed medical decisions.
Unfortunately, information on mutation frequency is limited and not always readily accessible within the public domain. This page, “Frequencies of Genetic Disease Mutations by Dog Breed” is an attempt to address this issue.
Two sets of mutation frequency data for dogs are presented, compiled by dog breed and by genetic disease. These data sets are as follows:
Labgenvet data: In 12 years of operation, the Laboratory of Veterinary Genetics (Labgenvet) was able to perform over 7,000 tests for dog genetic diseases and traits, with samples derived almost exclusively from purebred animals.
Two thirds of the samples processed were submitted by dog breeders while one third of the samples came from veterinary clinics.
Samples represented dogs mainly (but not exclusively) from Quebec and Eastern Canada.
Samples were processed for the specific disease mutation requested using techniques of PCR amplification and DNA sequencing. The frequency results presented are inclusive to June 1, 2021.
Data from Donner et al. (2018) data: This published data set represents 18,000 samples from purebred dogs. Each sample was profiled for 152 known variant mutations associated with canine genetic diseases. Testing was by hybridization of sample DNA on a custom designed beadchip microarray. Samples represented both European and North American dogs; results are inclusive to 2018.
For both data sets, the results are presented by dog breed, by disease, by number of samples processed and by number (and percentage) of samples recorded as:
N/N homozygous normal (clear) – not at risk of developing the disease.
M/N heterozygous (carrier) – for recessive mutations, not at risk of developing the disease; for dominant mutations, at risk of developing the disease.
M/M homozygous (double) mutant – at risk of developing the disease for both recessive and dominant mutations.
American Staffordshire Terrier
Nova Scotia Duck Tolling Retriever