And yet another DNA test

Several months ago a new DNA marker was found for a so far unfamiliar disease to me: Cystinuria Type 3. Cystinuria is the forming of a certain type of bladder stones, cystine. This type of cystine stones (type 3) is breed-specific for French Bulldogs.

Until recently it was a very unknown disease. The condition actually only presents itself in uncastrated, adult males and the majority of French Bulldog males is castrated. After castration they don’t produce testosterone anymore and in affected dogs this is linked to the forming of cystine stones. After castration the dog will never make new stones again. I have written more about this condition here.

Because I would like to keep up with all the developments in DNA testing to gather as much information as possible for now and for future generations I have tested Yara for Cystinuria Type 3. She will never show symptoms whatever the result may be, because she is a girl.
The test itself can be performed through a simple cheek swab. The swab is sent in an envelope to the University of Pennsylvania. One of the few laboratories in the world that can perform this test at the moment. After a couple of weeks the result follows by email.

Yara her swab was sent on the 7th of June and yesterday I received the result. Yara is Carrier of the Cystinuria Type 3 gene. Of course I would rather have had a Clear result, but unfortunately she isn’t. This means she has one Clear-gene and one Cystinuria-gene, her puppies will get one of these genes. Wich one is unpredictable and differs in every puppy..

Because I think it is important to know if any Affected puppies can be born I have asked Miro his owner if she was willing to test him. Luckily she was! Miro his swabs are already on their way to him and in a few weeks we will get the results. Different scenarios are possible.

1. Miro is Clear of Cystinuria Type 3. This means the puppies will be Clear or Carrier from this condition, They will not have symptoms.
2. Miro is Carrier of Cystinuria Type 3. This means that the puppies will be Clear, Carrier or Affected, In this case all male puppies will get the same DNA test as Yara and Miro. The cances of an Affected puppy to be born is 12,5%. When a puppy turns out to be Affected it will go to their new homes with a special neuter contract so they will never make cystine stones.
3. Miro is Affected of Cystinuria Type 3. Dit means the puppies will be Carrier or Affected. The chances of a puppy being Affected are 25%. When Miro turns out to be Affected we must go back a step and review if this combinaton is a wise one. Let’s hope this will not be neccesary!

When Miro his results come in I will let you know more.

Fingers crossed!