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Investigations - eng

11.01.2021
Analysis of the PRA-cord1 allele in bull-type dogs

A mutation in the RPGRIP1 gene, well known as PRA-cord1 in breeds such as the Beagle, Chihuahua, English Springer Spaniel, French Bulldog, Labrador Retriever, in the Dachs group of breeds and some others, having an autosomal recessive inheritance pattern with incomplete penetrance has also recently been found in bull-type dogs (American Pit Bull Terrier, American Staffordshire Terrier, American Bull and etc.).
It is worth paying attention to two aspects separately:
  • A known mutation is recessive with incomplete penetrance, i.e. the disease can manifest itself only in the case of a homozygote for the MM mutation, but not with 100% probability - this genotype increases the risk of developing progressive retinal atrophy associated with the mutation.
  • The detection of the mutation in bull-type dogs was first carried out by a standard method of analysis, which does not allow a detailed study of the mutation itself - this is done in the course of research work.