Dear David,
Here are your results.
Of the 20 volunteer GSD sampled and tested in this study, the only
GSD that is a carrier of this JRD mutation is GSD-007. The other 19
GSD are clear.
The results from the GSD 007 animal were confirmed from a second
brush and in an independent experiment to ensure that there were no
mix ups of the samples.
It is critical to this study that if GSD-007 has clinical symptoms
of JRD, that the clinical data be collected on this animal. More DNA
samples are needed especially from the dam and sire of this animal
and any littermates.
For the females in the study that apparently produced JRD affected
litters we would need the sire(s) of those litters, as JRD is
dominant and can therefore be transmitted by either parent, at least
in other breeds that we have studied.
Also the dogs to keep an eye on are the ones in the pedigree of
GSD-007 that have not yet shown any clinical signs of JRD, and any
other progeny from the sire and dam of GSD 007, and the grandparents
of GSD 007.
It would be most useful if any dog in the pedigree of GSD 007 that
is DNA tested for the mutation and found to be a carrier, to
consequentially widen the DNA testing to dogs linked to the
carriers. So as to track and identify as many carriers as possible,
then breeding plans can be made accordingly. Obviously a similar
process is very useful where any carrier is identified, by using
known JRD carriers pedigrees as a route map for the most essential
JRD DNA testing for the GSD breed.
The strict definition of JRD in the scientific literature and
amongst scientist is not exactly settled either, since terms like
juvenile renal dysplasia, Juvenile nephropathy, renal cortical
Hypoplasia etc. have all been used to describe the same disorder in
the same breed in many scientific articles with varying
pathologies.
This is very interesting to me as I told you that with other breeds
the mutation had gotten out of control, but I guess that they left
it too late, and there was no test available to eliminate this or
control it. If these results stand up in your breed, then I guess
that early detection of this in the UK could be rewarding,
especially if routine JRD DNA testing is now done throughout the GSD
breeding population of the UK.
Of course one must take in to account that throughout the world
different populations of purebreds are in geographical isolation,
and this mutation may be found to a higher degree in geographical
locations outside of the UK.
I need to point out that this is nobody's fault. MUTATIONS HAPPEN!
Best Regards,
Dr. Mary H. Whiteley, Ph.D DOGenes Inc.
:
+44 (0)1905 830900
