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Early onset hereditary cataract (EHC), sometimes also referred to as juvenile hereditary cataract, is a condition that is known to affect the French Bulldog. In the UK the condition is listed on schedule B of the BVA/KC/ISDS Eye Scheme, meaning it is considered to be an inherited problem in the French Bulldog and is officially ‘under investigation’. Although there are no published scientific reports describing the clinical characteristics of EHC in this breed, anecdotal evidence indicates the cataracts usually develop within the first year of life, are bilateral, symmetrical and progressive.
The mutation responsible for HC in several breeds has recently been identified at the Animal Health Trust. Using the information from this research, we have developed a DNA test for HC in Staffordshire bull terriers and Boston terriers and are now also able to extend the test to the French Bulldog. This test not only diagnoses dogs affected with the disease but can also detect those dogs which are carriers, displaying no symptoms of the disease but able to produce affected pups.
The mutation probably occurred spontaneously in a single dog but once in the population has been inherited from generation to generation like any other gene. The disorder shows an autosomal recessive mode of inheritance: two copies of the defective gene (one inherited from each parent) have to be present for a dog to be affected by the disease. Individuals with one copy of the defective gene and one copy of the normal gene - called carriers - show no symptoms but can pass the defective gene onto their offspring. When two apparently healthy carriers are crossed, 25% (on average) of the offspring will be affected by the disease, 25% will be clear and the remaining 50% will themselves be carriers
Under most circumstances, there will be a much greater number of carriers than affected animals in a population. Eventually, it will be important to eliminate such carriers from the population since they represent a hidden reservoir of the disease that can produce affected dogs at any time. However breeders may wish to use carriers in their breeding programs to keep desirable traits within their lines. It is perfectly acceptable to cross carriers with clear dogs, as no affected pups will then be produced and, on average, 50% of the litter will be clear and 50% carriers. However, it is important that any dogs from carrier x clear matings that will subsequently be used to breed from are DNA tested to distinguish those pups which are clear from those which are carriers.
The test is available now and information on submitting samples is given below.
Breeders will be sent results identifying their dog as belonging to one of three categories:
CLEAR: the dog has 2 copies of the normal gene and will neither develop Hereditary Cataract, nor pass a copy of the Hereditary Cataract gene to any of its offspring.
CARRIER: the dog has one copy of the normal gene and one copy of the mutant gene that causes Hereditary Cataract. It will not develop Hereditary Cataract but will pass on the Hereditary Cataract gene to 50% (on average) of its offspring.
AFFECTED: the dog has two copies of the Hereditary Cataract mutation and is affected with Hereditary Cataract. It will develop Hereditary Cataract at some stage during its lifetime, assuming it lives to an appropriate age.
Many breeders of French Bulldogs have generously contributed samples to the research leading to our identification of the mutation in this breed and we would like to thank them for their co-operation. Without these samples we could not have introduced this test. For those samples which were used in the research, owners are offered a certificate for a cost of £5 administration fee. For those samples submitted for research but not used in the research program, owners are offered one test at the discount price of £45. To check whether your sample was used as part of the research program, please contact the address given below.
Samples submitted should be cheek swabs (a non-invasive sampling method) obtainable from the Animal Health Trust. Samples should be sent together with a completed DNA Testing form and payment for each sample to Genetic Services, Animal Health Trust, Lanwades Park, Kentford, Newmarket, Suffolk CB8 7UU.
Kits for taking cheek swabs are available by phoning 01638 555621 or via e-mail to email@example.com.
Further information can be obtained by e-mailing firstname.lastname@example.org.The price of the test is £67, which includes both VAT and the cost of the sampling kit.
Taken from the Animal Health Trust website at http://www.aht.org.uk/genetics_hcas.html.
In this podcast we bring you an interview with Dr. Tim O’Brien, professor of veterinary anatomic pathology at the University of Minnesota College of Veterinary Medicine. Dr. O’Brien was funded by CHF to establish a laboratory-based system for understanding cancer stem cell development.
This podcast was made possible thanks to the generous support of the Kenneth A. Scott Charitable Trust, a KeyBank Trust.