and I cannot believe them! I recently stumbled across a discussion on PSSM in horses. Background on this disease can be found here. The reason why I became really interested is given here. In this blogpost, the author reports on a horses that showed some symptoms that reminded me quite a lot of my Gus. Since the mutation that causes PSSM is known, and I am a molecular geneticist I decided to sequence the exon 6 of the Gys1 gene in both my horses myself. So one morning I went out and plucked some hair from my horses manes, in order to extract their DNA from the hair follicles. It is quite amazing how massive those follicles are. I got plenty of DNA out of those small tissue samples.
Next I set up my PCR and run it in the PCR machine.
A few days later the University's core sequencing facility has sent the results of the sequencing back! The frequency of the mutation is about 8% in the QH population. It is dominantly inherited, meaning that just a single copy of the disease allele will cause some symptoms. However, symptoms can be very subtle and are easily misdiagnosed, especially when Vets, owners, etc., have not had any prior experience with this disease.
I must say that I was blown away to see that Molly carried the disease allele, but Gus did not. As I never really saw any symptoms on her. But as I know now, after researching a lot on the disease, Molly has always shown clear signs of the disease, I just never knew it and they were very mild, partly because she has always been kept in an ideal way for PSSM1 horses. I also was skeptical enough that I could have made an error, so I repeated the sequencing. Same result.
Next I set up my PCR and run it in the PCR machine.
A few days later the University's core sequencing facility has sent the results of the sequencing back! The frequency of the mutation is about 8% in the QH population. It is dominantly inherited, meaning that just a single copy of the disease allele will cause some symptoms. However, symptoms can be very subtle and are easily misdiagnosed, especially when Vets, owners, etc., have not had any prior experience with this disease.
I must say that I was blown away to see that Molly carried the disease allele, but Gus did not. As I never really saw any symptoms on her. But as I know now, after researching a lot on the disease, Molly has always shown clear signs of the disease, I just never knew it and they were very mild, partly because she has always been kept in an ideal way for PSSM1 horses. I also was skeptical enough that I could have made an error, so I repeated the sequencing. Same result.
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