Proposed Genetic Study At Animal Health Trust To Find Gene Responsible For PHPV

Persistent Hyperplastic Primary Vitreous, or PHPV, is a congenital condition caused by the retention of elements of the foetal vascular supply to the lens. The condition results in variable amounts of fibrovascular plaque on the posterior lens capsule and possible posterior cortical cataract. PHPV is inherited in Staffordshire bull terriers although the precise mode of inheritance is unknown.

The Genetics team at the Animal Health Trust has successfully identified the mutations responsible for two other inherited conditions that affect Staffordshire bull terriers, Hereditary Cataract (HC) and L-2-Hydroxyglutaric Aciduria (L-2-HGA) and DNA tests are now available for both these conditions.

The same team of scientists is now hoping to study the genetics of PHPV in the hope of eventually being able to develop a DNA for this condition to add to those for HC and L-2-HGA. The AHT intends to apply for funding to study PHPV in collaboration with a team of human geneticists (geneticists who study humans as opposed to dogs), but competition for funding is likely to be stiff. The chances that the application will be funded and that the research can go ahead will be greatly improved if the AHT can demonstrate the successful collection of an adequate number of samples to undertake the research by the time the application is submitted (hopefully by the first few months of 2007).

We need:

        samples from dogs AFFECTED with PHPV

samples from parents, siblings and grandparents of affected dogs

For each sample we need:

1. a completed submission form

2. a 5 generation pedigree

3. a copy of the dog’s BVA/KC/ISDS certificate of eye examination to confirm diagnosis. This applies to both affected and unaffected dogs.

The samples can be collected as 5ml blood samples, preserved in EDTA (if the dog is having blood drawn for another purpose) or as simple cheek swabs. Swab kits and submission forms can be requested, free of charge, from: Bryan McLaughlin

Animal Health Trust, Lanwades Park, Newmarket, Suffolk CB8 7UU. bryan.mclaughlin@aht.org.uk

For further details about this proposed research please contact Dr Cathryn Mellersh:

cathryn.mellersh@aht.org.uk

If you have a dog that can contribute to this research please consider donating a sample. The AHT relies on samples from pet dogs and cannot undertake this research without them.

 

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