HCM and PKD1 Testing

We DNA test all of our Breeders at Dixie Ragdolls for HCM and PKD1 through UC Davis Vet Labs.

All of our kittens are HCM  and PKD1 Negative by parentage.

https://vgl.ucdavis.edu/services/cat/HCM.php

Ragdoll HCM

The Ragdoll HCM mutation, known as R820W, is a single base pair change in MYBPC3 that is thought to alter the shape and function of this essential protein for normal heart muscle development. The same R820W mutation has been found to be associated with HCM and left ventricular non-compaction in humans (see reference below, Ripoll et al. 2010). Recent studies show cats that are heterozygous (1 copy) for the mutation are not likely to show signs of the disease and may live a normal lifespan. Homozygous (2 copies) cats for the mutation are at high risk of developing severe HCM signs, usually between 1-2 years of age and have a greater likelihood of early cardiac death. Infrequently, homozygous cats do not show clinical signs of HCM.

Breedings between 2 heterozygous cats are expected to produce 25% high risk kittens. It is not recommended to use cats homozygous for the R820W mutation in a breeding program.

The Veterinary Genetics Laboratory offers a test for the Ragdoll HCM mutation to help owners and breeders identify the Ragdoll HCM status of their cats.

Results reported as:

Test Result Ragdoll HCM Status
N/N Normal, cat does not have the Ragdoll HCM mutation
N/HCMrd 1 copy of the Ragdoll HCM mutation present
HCMrd/HCMrd 2 copies of the Ragdoll HCM mutation present; cat is at high risk for HCM

 

Detailed PKD1 Information

Genetics and Inheritance

Early onset, bilateral presentation (both kidneys), and multiple cysts are all traits of the heritable form of the disease. The kidney cysts for PKD1 present early, often before 12 months of age. Renal failure, however, usually occurs at a later age. Thus, PKD1 is considered a late onset renal disease. In the fancy cat breeds, PKD1 is inherited as an autosomal dominant condition. This implies that one copy of the gene is required to produce PKD1. Generally, 50% of PKD1 positive cats’ offspring will inherit PKD1. A positive cat could potentially be homozygous for PKD1 and all offspring produced would have PKD1. It is suspected that cats that are homozygous for PKD1 are not abundant and the homozygote form could be lethal in utero or severely present at a very early age. Further research is required to prove the effects of the homozygote condition.

 

 

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