Request for DNA samples of dogs affected with Hereditary Cataracts and that of their close relatives

As you are no doubt aware, Alaskan Malamutes are pre-disposed to Hereditary Cataracts. At the present time very little information exists on the mode of inheritance and the gene involved. I am undertaking a voluntary scheme where by I collect DNA samples of dogs affected with Hereditary Cataracts (HC) and that of their close relatives and send the samples to the Animal Health Trust to assist in their research. I am appealing to everyone who would like to see the gene responsible for HC in Malamutes identified to help us in this project.

The Animal Health Trust (AHT) work towards understanding the genetics of inherited conditions and aim to develop DNA based diagnostic tests which breeders can then use to help minimise and potentially eradicate the occurrence of certain genetic defects.

The AHT's progress in identifying marker genes for HC:

Over a 6 year period, the AHT collected samples and undertook research which enabled them to identify a mutation in one gene which they found was responsible for HC in Staffordshire Bull Terriers.

The AHT then examined DNA from other breeds that suffered from HC and found that Boston Terriers whom were affected with HC carried two copies of the same gene mutation as SBT's. This information enabled the AHT to create a DNA test for SBT's and Boston's.

DNA samples from a few Australian Shepherd Dogs were examined and it was discovered that even though they had a different mutation to SBT's and Boston's, it was in the same gene. Therefore the AHT believe that they have identified the gene that causes HC in Aussies and are finalising the identification of the marker gene and its inheritance pattern in the Australian Shepherd, with the view to making a DNA test available in the near future.

Whilst performing this research, it was found that Golden Retrievers and American Cocker Spaniels affected with HC did not carry this particular mutation, so the AHT are currently researching which gene may be involved in these cases. The AHT are also undertaking research into the gene responsible for HC in the Siberian Husky.

In order to identify whether or not a breed carries a similar mutation to those already discovered, The Animal Health Trust (AHT) require DNA samples from affected individuals and that of close relatives. I am organising samples to be sent and kept on file to be used in their ongoing research.

All I will need from owners is a copy of the individuals 5 generation pedigree and a copy of their last eye test certificate. I will provide the kits required to take the samples, which, along with the paperwork, will then be passed on to the AHT. The process is very simple, a cheek swab is all that is needed to collect the DNA sample from the inside of the dog's mouth. It is important to note that the AHT should be informed of any significant health changes that occur after the sample has been submitted.

The more samples the AHT receive, the more likely they are to be able to locate the gene concerned and to establish the mode of inheritance of HC in the Alaskan Malamute in the future.

If you would like to contribute a DNA sample for ongoing research (overseas samples will also be gratefully accepted) please contact:

koyukuk_sleddogs@yahoo.co.uk

All help in this matter will be very much appreciated.