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Last modified: 11/09/07

Renal Dysplasia:

An Update and Advice
for Breeders
on How to Use the Current Test
by JoAnn Gustafson

 The American Shih Tzu Club Gene Mapping  Committee, of which I am a member, was formed to  support scientific research that would help eliminate  hereditary Renal Dysplasia (RD, a developmental  disorder in which the kidneys fail to mature normally)  in the Shih Tzu. Since the committee began we have had the ultimate elimination of this dread disease as our clear goal. Years have passed and the ultimate goal has not been reached, but that does not mean that we have not made progress.

Puppies that are severely affected by RD generally die of renal failure by the time they are 6 months old, and therefore do not reach breeding age to pass along their defective genes. Moderately and mildly affected dogs may live normal life spans with few or no obvious signs of the disease, although its presence can be detected through the performance of a wide wedge kidney biopsy-a major surgical procedure. The big problem in eliminating the disease has always been how to identify the silent carriers of RD, who tested normal on all of the previous (non-genetic) tests but still carried at least one defective gene and could pass it along to their offspring. 

Two and a half years ago scientists found what they felt was a significant step in the right direction when they located a genetic marker linked to hereditary renal dysplasia, on a string of DNA. This research, funded by the AKC Canine Health Foundation, the ASTC, the Lhasa Apso Club of America, and the Soft-Coated Wheaten Terrier Club of America, is being conducted at the University of Michigan under the direction of Dr. George Brewer. The noninvasive linked marker test Dr. Brewer's researchers developed is conducted on a sample of tissue that is collected by a dog owner with the use of a cheek swab. The swab is then sent to VetGen for processing. In addition to the linked marker test for RD in Shih Tzu, Lhasa Apsos, and Soft-Coated Wheaten Terriers, VetGen also offers several other marker tests for other diseases in various breeds. The VetGen linked marker test for Copper Toxicosis, for example, has significantly reduced the number of Bedlington Terriers affected by this disease.

Dr. Brewer has been very supportive in talking to us about the research and the progress that has been made in the last few years. The last report given by Dr. Brewer told us that the first two sets of DNA strings had been sequenced, but they had not   produced the defective gene that they are looking for. The scientists then started sequencing another set of DNA strings that are closely associated with the kidney. At this time they have finished sequencing these two genes, and did not find the gene defect. They now plan to use other DNA markers in the area to locate the gene more closely.

With this in mind, I would like to clear up some misconceptions that are floating around the dog world. First, almost all of the defective genes discovered start out with a marker test. The marker test is sometimes all that is ever found, so it should not be discarded because it is not 100% accurate. As far as I know there is no basis to judge the marker test for RD as a bad test or unusable for guiding the dog breeder in producing litters of pups that would have a   reduced chance of producing offspring affected by hereditary renal dysplasia. Using the marker test until the scientists can locate the defective gene seems to be one of the main tools breeders can use to plan future breedings. The test is to be used as a tool to receive   the best information available to get the best product (healthy puppies) delivered. It is not and never has been a 100% accurate test for the disease itself. 

I have had some breeders tell me that if the dog had a marker then the dog would be 80% affected with RD. This is not correct. You could have a dog with 1 or 2 markers (one marker can be inherited from each parent) and the dog could never be affected with RD.   However, this does not mean that the dog is not a carrier that is able to pass the disease along to its puppies. In fact, we know that there are dogs that  have wedge-biopsied normal but have produced RD puppies. The 80% refers to those dogs clinically affected with RD.  For example: If you produced 100 puppies and 10 of these puppies are affected with RD, then 8 of those (or 80% of the 10) should have I marker or more. The other 90 puppies will live happy normal lives. Our concern is then focused on those 10 puppies.

If you took the same 100 puppies and all of these puppies had no markers, the percentage of RD dogs produced would reduce to 2 puppies. It then only follows that the longer you breed no-marker dogs to no-marker dogs the smaller the percentage would become.  By selectively eliminating those parents that produced the 2 puppies affected, it would then be reasonable to expect that the next 100 puppies would not be affected by RD. The unknown factor would be new bloodlines brought into the breeding program. Remember that if the kennel involved has a history of producing a high number of affected RD dogs then the percentages are adjusted to reflect the increase. 

The criticism I've heard from breeders is that the test does not work. This statement is based on the factor that there have been dogs with no markers that are affected by or have produced RD. I have already explained why this occurs. It in no way reflects on the test. Your dog has either zero, one, or two markers.  The test is accurate in locating these markers. In those dogs tested in kennels that are active in the testing process, I have had no party contact me that could prove differently. The one dog that was mentioned in another article seems to be the one that does not fit the results expected. In the last 2 1/2 years I have tested over 40 dogs. All of these dogs' test results came back as expected. I found only two times that the results were not what I thought they would be. In both circumstances the mistake was mine in not knowing the number of markers each parent had. 

The first case was when a litter of 5 pups was tested and all of the pups had 2 markers. After I peeled myself off the ceiling, I started to research what went wrong. The mother had 2 markers and was bred to what I believed was a no marker male. The male was purchased from another breeder who supplied a copy of his no marker certificate from VetGen. I then contacted VetGen to confirm the certificate. I was told that the number on the certificate did not match the name of the dog listed on my copy. Because of the confidentially procedures that VetGen has, I could find out nothing else. I then went back to the breeder. The end result was that I discovered I had received a falsified certificate from the breeder. The copy of the certificate had been altered to reflect a no marker dog, but in reality the dog had 2 markers.  

The second time is when I thought I had bred a 1 marker bitch to a no marker male and came up with four I marker pups. Come to find out we had never tested the bitch for some reason and had somehow convinced ourselves that she had one marker when she really had two. So you can see that not paying attention to some details can cost you a lot of time and money. But the end result is this: the test is accurate. It is how you are using the test- that will make the difference. 

In my case, in the initial 26 dogs tested three years ago  I had 2 dogs that had no markers, and one of those was  neutered and in a pet home. Of the 26 dogs tested only 15 resided in my kennel. So out of the 15, I had 1 with no marker, 5 with two markers, and 9 with one marker. In order to keep the other good qualities  present in the genetic makeup of the dogs with one or  two markers, I decided to breed the marker dogs with a  no marker male and keep pups that had no markers or I  marker (depending on the bitch bred). At present we have found homes for all of the 2 marker dogs and kept some of their 1 marker offspring. We now have 3 males with no markers and 5 females with no markers.  We have kept one seasoned male with I marker (since he has a long history of producing healthy pups from a lot of different bitches) and four females with 1 marker. The plan is to place at least two of the 1 marker females this year when those are replaced with their offspring that have no markers. None of the 4 males that I have are related, which allows us to keep a large gene pool for the next five to ten years of breeding. I am hoping that when Dr. Brewer discovers the defective gene I will be able to keep 80% or more of my dogs by breeding all no marker dogs. For those of you that are not testing, be prepared to eliminate 80% or more of your dogs if and when the gene is discovered. 

My recommendations to people that call me wanting to start showing or breeding dogs is to buy only no marker dogs. Why start a breeding program already in the hole? If you have dogs, get them tested. Tests can be purchased in large numbers for as little as $99.00 per test. Be sure you know what dogs have what markers and breed accordingly. You can eliminate some of the testing expense by just knowing what markers each dog carries. Don't be afraid to breed your 2 marker dogs--just be sure you are breeding them to no marker partners. All the pups produced will have 1 marker and no testing is necessary. 

If you want to breed to that good looking male that is being advertised and the owner has not tested the dog, then send a no marker bitch. Test those pups, the results will give you a very good idea what the stud’s marker status is. With a whole litter of I marker pups, the stud is probably carrying 2 markers. A litter that has 1 and zero marker pups likely means that the stud is carrying I marker, and a litter of no marker pups means you have hit the jackpot and the stud could be a no marker male.

Partner up with another breeder and trade dogs. I have   traded for one of my no marker males and also for a   non-related no marker female. If you are buying or trading, be sure you get the original copy of the VetGen certificate. A written release from the owner to get information from VetGen on the certificate should also be requested.  Always assume that the dogs you have that are not tested have 2 markers and breed   accordingly. I am always leery of those breeders that say "I don't test because I have never had a problem."   If they have not had a problem then they have been very lucky, but I know that they have had pups die at birth or soon after for unknown reasons. Can they be sure that these were not RD affected puppies?  I would rather deal with someone that admits they are trying and allows that there could be a problem than to go about raising and showing dogs with an "it won't strike me" attitude. (It WILL strike, eventually.)

The last item is that those people that are testing should   be registering their dogs on the OFA register as no marker dogs. This would help other breeders find puppies or studs for future litters.

Most of our members have supported the research and   supported the testing program. There are still a few that want to degrade the efforts made. This test is the best science we have at present, so it would be a shame to ignore it. Ignoring the issue does not make the problem disappear. It will only ensure that we continue to reproduce the hidden defective gene. Be sure you are doing all you can to produce not only a beautiful dog for the show ring but a dog that can produce healthy show dogs and pets for the future.

Please continue to support this research- not only with   your donations, but by testing your dogs. If we all do our part, we will all get to the winners circle together.

JoAnn Gustafson

This article originally appeared in the American Shih Tzu Club  magazine.  It was reprinted with the permission of the author.

Also see the page on Markers & Pets!

There is a Yahoo Group for support and info with dogs with kidney and bladder problems, if you are looking at this page because you have a dog with problems, go to: http://groups.yahoo.com/group/K9KidneyDiet/  and sign up! 

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