All change for gPRA testing.

It is no longer possible to have the DNA test for CRD3 in Glen of Imaal Terriers at Bochum University. Biofocus (also in Germany) have taken it over.

The form for submission is on http://www.biofocus.de/media/files/downloads/125_submission-form-v3-20180301.pdf

Information on how to take a swab http://www.biofocus.de/media/files/downloads/130_buccal-swab-collection-biofocus.pdf and 1 ml EDTA-Blood is sufficient

The price, if a member of a Glen breed club is 40,00 Euro plus 19% VAT, Non-members will have to pay 45,00 Euro plus VAT.

CRD3 Testing

All Glen of Imaal Terriers that are to be bred from should certainly be DNA tested for CRD3 which is why there will be a blood taking session (for Bochum)at the EFG weekend-let Jean know if your Glen will require it-but we appreciate some people will find it easier to attend an Optigen clinic. Received from Becky “We will be having our summer discount promotion in August. We will post the information as soon as the dates have been set. Becky"

Let’s start as we mean to go on.

Huge strides have been made in Glen of Imaal Terrier health so let’s  keep it going through 2012. Eye testing (both physically and by DNA) is the promotion so mark it in the diary for this year.

Bochum, the cheaper of the two options available to the breed, is easier if you are able to arrange things yourself. Jean Rogers jean@e-f-g.co.uk will provide details. Optigen is done in the UK via clinics and the next one is February 7th at Foxbarton, 15 Beaconsfield Road, Langley Vale, Epsom, Surrey, KT18 6HA.You can either attend the session with your Glen, or you can choose postal participation. Either way, please contact Val Tilley val.tiller@talk21.com as soon as possible to either arrange an appointment or to find out when she needs blood samples sent.

There is a 5% discount for online submission of paperwork, which is pretty straightforward to do but needs to be done in advance of the session, so that you can print off and bring the paperwork with you. If you are going to do this, please wait until you have spoken to Val, because she can give you her discount code to enter on the paperwork, and which entitles you to a further 25% discount. Alternatively, you can print out the submission form and fill it in by hand; or Val can complete paperwork for you at a small charge that is donated to Border Collie Rescue.

Your dog must have some form of permanent identification (PI) – microchip or tattoo – to be eligible for testing for GPRA-crd3. If you are doing “postal participation” please remember that OptiGen will only take BLOOD samples for Glen testing; you will need to arrange for your vet to draw blood and then send the sample and paperwork to Val for shipping to the OptiGen lab in America.

There is a reasonable charge at Val’s sessions to cover drawing blood, labelling and shipping. Tea and biscuits are provided!

Serious bummer or any other word you would prefer

All year Glen of Imaal Terrier people have been waiting for some news. You haven’t pushed us, we haven’t pushed them…well, not to be begin with anyway.

Back when the Kennel Club Charitable Trust gave the grant to the EFG  (on behalf of Glen of Imaal Terriers) one of the provisos was that, if the gene could be found, it would be very appreciated if the Animal Health Trust could have the test for inclusion in the services they offered. We all know that Optigen and Bochum discovered it seemingly within about 30 seconds of each other. We all know that the test has been adopted with enthusiasm by the international Glen community. We all expected it just to be a matter of time before the AHT included it on their list as Bochum had instantly made it available to them. We are all to be disappointed.

This is part of an email from the AHT “Due to the nature of the genetic change involved, the test would not fit in with our diagnostic procedures. I had hoped that we would be able to get round that but I am sorry to say that we haven’t been able to do that yet, and I cannot justify committing any further resources when your members do already have the option to have the test done at two different laboratories.” Needless to say we have contested this VERY strongly but the decision has made.This now leaves us with the choices of Optigen or Bochum University who both will continue to provide us with the necessary testing.

OptiGen will be offering their Winter Discount Days for online entries starting January 2nd through January 16th. Entries need to be made during that time using the code Happy2012 for the maximum discount of 25%. Clients will have up to 30 days from the date of their online request to get samples to OptiGen for testing. For more information, please contact Becky at (001) 607-257-0301 or email genetest@optigen.com.

Keeping things up to date

Here are the worldwide and UK numbers of Glen of Imaal Terrier that have been tested for GPRA-crd3 since the DNA test became available in June 2010.

OptiGen (America), who mainly receives samples from the US, UK and Ireland, has tested a total of 277 Glens (worldwide) – Clear: 132 (48%); Carrier: 119 (43%); Affected: 26 (9%).  Of these 277 Glens, 57 are from the UK – Clear: 28 (49%); Carrier: 26 (46%); Affected: 3 (5%).

Bochum (Germany), who mainly receives samples from mainland Europe and the UK, has tested a total of 265 Glens (worldwide) – Clear: 154 (58%); Carrier: 93 (35%); Affected: 18 (7%).  Of these 265 Glens, 21 are from the UK – Clear: 14 (67%); Carrier: 5 (24%); Affected: 2 (9%).

 Worldwide (figures from both OptiGen and Bochum) demonstrate – Clear: 53%; Carrier: 39%; Affected 8%.  OptiGen and Bochum have a total of 78 UK results, but 3 Glens (Clear x 1, Carrier x 1 and Affected x 1) have been tested at both labs, effectively making it 75 UK Glens DNA tested for GPRA-crd3.  The distribution of Clear, Carrier and Affected are as follows: Clear: 41 (55%); Carrier: 30 (40%); Affected: 4 (5%).

Since October 2010, when the Glen of Imaal Terrier DNA Testing Scheme was established by the Kennel Club, the results of all UK Glens have been sent by the testing laboratory (OptiGen or Bochum) to the Kennel Club.  The results of 58 of the 75 tested Glens have now been published on the Kennel Club website: www.thekennelclub/item/3384 (updated 1st August 2011) – Clear (35); Carrier (22); Affected (1).

The results of another 9 Glens – Clear (4); Carrier (5) – have been published on either the GOITA website (www.goita.co.uk – Glen Health: DNA TEST Results UK) or the EFG Blog (www.e-f-g.co.uk – Blog: Categories: PRA DNA news).  A further 8 results – Clear (2); Carrier (3); Affected (3) – have not been published at all.  All these Glens would have been tested between June/Jul and Oct/Nov 2010).

If you have had your Glen DNA tested for GPRA-crd3 and the results do not appear on the Kennel Club website – see above for link – then this is what to do!  Send a COPY of your Glen’s DNA test certificate to: Health & Breeder Services Department, The Kennel Club, 1 – 5 Clarges Street, Piccadilly, London, W1J 8AB.  (There is no charge for this service).

 

We all did our bit..

Regina Kropatsch was the lady at Bochum who discovered the gene mutation in Glen of Imaal Terriers. It was done as part of her doctorate and on April 11th she learnt she had passed with honours. Many congratulations, Glen of Imaal Terrier people owe you one.

So just WHAT is it about?

The DNA PRA Lists that so many Glen of Imaal Terrier people around the world contribute to only happen because of the work by Bochum in Germany and Cornell in the United States. The “head honchos” of both organisations have now delivered presentations to breed enthusiasts and, if interested, anybody can now have the story of how the Adam 9 gene mutation was discovered. The talk by Dr Acland is available from Susan Blum susan.blum@valley.net . The cost is 10 dollars if in the US but it can be sent worldwide. The Prof. Epplen talk is on the EFG website.

Another List for the Files

The latest DNA results for PRA in Glen of Imaal Terriers. Thank you to everybody for sharing. Some names you will have seen before-these are the people who have sent samples to both Bochum & Optigen-the results came back the same!

Abberann Abaigeal. Carrier

Beechvalley Oscar. Affected.

Brockland Belle Bregorrey. Carrier

Brockland Merrylegs for Bregorrey. Affected

Daulton’s Devoted Sligo. Carrier

Eibhleann Briana Kyna Kaylhee. Normal/Clear

Fire & Ice Arriva. Normal/Clear

Hammersmølles Eos. Carrier

Hammersmølles Erato. Affected

Kieran Goya Tailwaggor Tyndall – Normal/Clear

Kilkenny’s Another Brick in the Wall. Carrier

Kilkenny’s BluBallymaloe. Normal/clear

Kilkenny’s Cobalt Connection Carrier

Kilkenny’s Glen Bailey.  Normal/Clear

Kilkenny’s Glen Ronan. Normal/clear

Kilkenny’s No Regrets. Normal /clear

Johnny Be Good at Romainville. Normal/Clear

McCormac Earc of Slane. Normal

McCormac Lí Ban Lúathlám. Normal/Clear
McCormac Muadhnait. Normal/Clear
McCormac Noísio. Normal/Clear
McCormac Nárbhla Báethchellach. Carrier

Miimoksen Pohjan Kruunu. Normal/clear.

Ravencroft Banrion Riabhach. Affected.

Ravencroft Deirfiur Beag. Carrier.

And now…..

Within weeks of each other the two organisations declared a breakthrough in the search for the gene that causes PRA in Glen of Imaal Terriers and today, after the epublication from Bochum the full paper from Optigen. They also conclude an ADAM 9 mutation is the cause so provisionally it seems both have found the same thing. The full link to the Bochum paper is here  for anybody who wishes to check research and analysis. We should have realised that some of our more learned people would want the full monty rather than the abstract!

Everybody has been asking!

Over the past few months the question in the minds of many Glen of Imaal Terrier breeders has been a genetic one. The breed has been so fortunate having two places (Cornell & Bochum) looking in the PRA problem and unbelieveably both declared success but was it the same gene causing the mutation that both had found? The only way to know was when both organisations published; below is the epublication from Bochum.

Generalized progressive retinal atrophy in the Irish Glen of Imaal Terrier is associated with a deletion in the ADAM9 gene.

Kropatsch R, Petrasch-Parwez E, Seelow D, Schlichting A, Gerding WM, Akkad DA, Epplen JT, Dekomien G.

Department of Human Genetics, Ruhr University, Universitätsstrasse 150, 44801 Bochum, Germany.

Abstract

Generalized progressive retinal atrophy (gPRA) belongs to a group of inherited retinal diseases which are associated with gradual vision loss in various dog breeds, including the Irish Glen of Imaal Terrier (GIT). By genome-wide homozygosity mapping using SNP arrays and fine mapping of candidate regions, we assigned the gPRA candidate locus in this breed to canine chromosome 16. The respective region is syntenic with human chromosome 8 comprising the ADAM metallopeptidase domain 9 (ADAM9) gene. ADAM9 represents a strong candidate gene for canine retinal disease because mutations have previously been shown to cause autosomal recessively inherited human cone-rod dystrophy, a retinal disorder affecting photoreceptor function. Sequence analysis of ADAM9 in affected and carrier GITs revealed a deletion of exons 15 and 16 which alters the reading frame leading to a premature stop codon. This mutation was absent from 34 other dog breeds. A variable and, at times, very late onset of gPRA was confirmed in GITs by a relatively mild retinal degeneration at an advanced age. Hence, the identification of the genetic defect underlying gPRA in the GIT represents a suitable model for cone-rod dystrophy of humans, with superior potential to elucidate functional consequences of the recently described null mutations in the human ADAM9 gene. Copyright © 2010. Published by Elsevier Ltd.