I just got a call from UPenn about Brinkley’s DNA Cystinuria test. She is CLEAR!!! Not that I had reason to worry, but this really just made my day!
For anyone waiting on the results they are calling everyone instead of mailing or emailing right now to try and explain what the results mean. They said once everyone was notified they would work on trying to put it in words they can send out with the results.
Here are the notes I took from the call if anyone can decipher them or if anyone else has gotten a call yet correct me if I misunderstood something. It was pretty confusing.
Cystinuria is sex-limited, meaning is can be passed by males and females alike. There are certain allele sets that are different in clear dogs v.s. affected dogs. In most stone-forming affected males the DNA on not just on that set of gene’s but all around it is affected or different (I keep thinking mutated, but they didn't use that term). Both parts of the allele set are affected in most stone formers. Dogs that only have one part of the set affected by this DNA change seem to test positive with urine nitroside tests, but most don’t form stones in most cases.
However a small portion of the dogs with just one set of gene’s affected do form stones, and yet a smaller percentage of dogs that have both allele sets affected never form stones or test positive with a urine nitroside test.
It is important to remember that females can be affected genotypically, meaning they have both allele’s affected but because they never show the symptoms they are not affected phenotypically. They can still pass that gene onto their offspring.
Dogs without any gene mutation are as clear as can be at this time with the still limited knowledge of this disease.