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Transmission of an Autosomal Recessive Genetic Disease

in Dogs

 

An autosomal recessive genetic disease is a condition caused by a mutation in one of the genes located on a non-sex chromosome (called an autosome). In dogs, as in humans, genes are inherited in pairs—one from each parent.

In the case of an autosomal recessive disease, both copies of the gene (one from each parent) must carry the mutation for the dog to develop the disease.

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How is such a disease transmitted?
 

  • A parent carrying two copies of the mutated gene:
    If a dog is affected by an autosomal recessive disease and carries two copies of the mutated gene (homozygous for the mutation), it will always pass on one mutated copy to each of its puppies. However, for the puppies to be affected by the disease, they must inherit a second mutated copy from the other parent.

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  • One parent carrying a single mutated copy and one healthy parent:
    If a dog carrying a single copy of the mutated gene (heterozygous for the mutation) is bred with a healthy dog (who does not carry the mutation), none of the puppies will be affected by the disease. However, each puppy has a 50% chance of being a carrier of the mutation.​

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  • Two parents carrying a single mutated copy:
    If both parents carry the mutated gene, each puppy has:     
    - a 25% chance of inheriting two normal copies of the gene (healthy),
    - a 50% chance of inheriting one normal copy and one mutated copy (carrier),
    - a 25% chance of inheriting two mutated copies (MM) and developing the disease.

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  • Two parents carrying two mutated copies:
    If both parents carry two copies of the mutated gene (MM), all puppies will also inherit two copies of the mutated gene and will therefore be at risk of developing the disease.

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  • One parent carrying two mutated copies and one parent carrying a single mutation:
    Each puppy has:
    - a 50% chance of inheriting one normal copy and one mutated copy (carrier),
    - a 50% chance of inheriting two mutated copies (affected).

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How can this disease be prevented?

  • Genetic testing:
    Before breeding dogs, it is essential to perform genetic testing to identify carriers of mutations responsible for autosomal recessive diseases.
     

  • Breeder selection:
    Avoid breeding dogs that carry two copies of the mutation. If a dog carrying two copies is used for breeding, it must be paired with a dog that has been tested and confirmed healthy.
     

  • Controlled breeding programs:
    Work with veterinarians and genetic specialists to establish breeding programs aimed at reducing the prevalence of genetic diseases in the canine population.

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Conclusion:
Autosomal dominant genetic diseases can be effectively managed through genetic testing and careful selection of breeding dogs. By taking these precautions, breeders can reduce the risk of transmitting these diseases and improve the overall health of their canine lines.

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