Miniature & Bull Terrier Complaint and Genealogy (mBTcg)
Entry Area - English prefered + German allowed => News / Neuigkeiten => Topic started by: Tadi on September 04, 2009, 03:29:25 pm
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DIE SENSATION!!!
Heute ist der Tag der Tage für den Mini!!!!
Haben eben eine E-mail vom AHT bekommen, dass die endgültige Mutation gefunden ist und möglicherweise schon Ende Oktober den endgültigen PLL-Test.
Wahnsinn!!!
Posted on: September 04, 2009, 04:03:08 PM
Here is the email from the AHT... with the BEST NEWS EVER!!!!
Dear All,
It with very great pleasure that I am able to tell you that we have, at long last, identified the mutation that causes PLL.
The discovery was made by members of the AHT canine genetics team, in collaboration with David Sargan's research group (Cambridge University) and David Gould (Davies Veterinary Specialists).
We had hoped to be able to offer breeders a linkage test before the end of the year, but in fact the DNA test that will shortly be made available will be based on the exact mutation that causes this horrible condition so will considerably more accurate.
Brief details will be placed on our website by the end of the day and the test will hopefully be availaible by the end of October 2009.
Please note - the test is not available yet. We will make full details available as soon as all details have been finalised.
We will also provide full information on how to request results for dogs whose samples contributed to the research.
Please watch our website for full details as they emerge.
Over the coming days and weeks we will be formally notifying all relevant Breed Club secretaries and health Co-ordinators but please feel free to share this exciting news with whoever you like.
I would personally like to thank all of you who have worked with me tirelessly over the years on this project, providing samples, information & support. It is announcements like this that make my job so rewarding.
Have a good weekend.
Cathryn
Hey Adrian, when will we drink the promised champange?
I’M SO HAPPY!!!
Greetings
Zori & Tadi
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Oh man....ich bin so glücklich, das es jetzt endlich soweit ist!!! Ich glaub ich m,ach heute Abend auch erst mal ne Flasche Chamus auf!! :drinks:
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Danke für die schnelle Info!
Einfach Klasse!!
LG Günter
PS: Hätte 1000000 Fragen, aber erst mal sacken lassen :wbt: :tbt:
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More information from america is available here: http://www.caninegeneticdiseases.net/GLX/mainGLX.htm
Owner who have send them DNA samples can already request results (this is not for people who send the Samples to England/AHT)
Posted on: September 04, 2009, 07:21:16 PM
The official statement of AHT: http://www.aht.org.uk/news.html#pll
Geneticists identify a mutation for Primary Lens Luxation (PLL) in several breeds.
(September 2009)
A mutation responsible for the development of primary lens luxation in many breeds of dogs has been identified by geneticists working in the Kennel Club Genetics Centre at the Animal Health Trust, led by Dr Cathryn Mellersh, in collaboration with Dr David Sargan (Cambridge University) and Dr David Gould (Davies Veterinary Specialists).
A DNA test for this mutation is expected to be available by late October, 2009.
Primary Lens Luxation (PLL) is a well-recognised, painful and blinding inherited eye condition that affects many breeds of dog. In affected dogs the zonular fibres that support the lens breakdown or disintegrate, causing the lens to fall into the wrong position within the eye. If the lens falls into the anterior chamber of the eye glaucoma and loss of vision can quickly result.
The team of scientists have identified a mutation that is responsible for the development of PLL in several breeds, including the Miniature Bull Terrier, the Lancashire Heeler, Tibetan Terrier, the Jack Russell Terrier, the Parson Russell Terrier, the Patterdale Terrier, the Sealyham Terrier and the Chinese Crested dog.
A DNA test soon to be made available at the Animal Health Trust can be used to determine a dog’s genotype with respect to this mutation. Dogs will be identified as CLEAR (has two normal copies of the gene), CARRIER (has one normal copy and one mutated copy) and AFFECTED (has two copies of the mutation). Breeders will be given an estimate of each dog’s risk of developing PLL depending on their genotype and will be able to make sensible breeding decisions that minimise the risk of producing dogs that will become affected by this serious and debilitating condition.
Breeders and owners will be able to test their dogs using a simple test kit that will be made available shortly. It will be possible to collect DNA from dogs to be tested via a simple cheek swab which will be included in the test kit, along with all information, necessary forms and full instructions.
PLEASE NOTE: THIS TEST IS NOT YET AVAILABLE. FULL DETAILS WILL BE POSTED ON THIS WEBSITE AS SOON AS THEY HAVE BEEN FINALISED.
Owners who submitted samples for the PLL research prior to September 1, 2009 may request test results using a form that will also shortly become available on this website.
We would like to sincerely thank all the many owners and breeders, from all over the world, who have contributed DNA and information from their dogs to this project. This discovery would not have been possible without them. We would also like to thank everybody who has made a financial donation to support the research.
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More info from the MBT List
Hi Everyone,
I wanted you to know that I have talk with Liz Hansen at the University of
Missouri College of Veterinary this morning and I have GREAT NEWS!!!!!!!! !!!
There has been over 200 blood tests sent in ... Liz Hansen gave me quick
breakdown this morning of 69 that they have results on at this time. Here
is the breakdown
19 Mini bulls were sent in by owner as being affected and the test confirmed
with diagnosis "Affected".
50 Mini bulls were tested out of the ones tested 28 were identified as
normal and 22 were identified as carriers.
The University of Missouri will very soon in the near future be addressing
what paperwork for those of you who have submitted blood how to get your
results. I will keep all posted as to any news I have from here out.
This is great news!!!
I am hoping to have Liz Hansen do a presentation at one of our bigger shows
coming next year.
Deb Guerrero
MBTCA Head of Health
"Have a Nice Day!"
http://www.cambria- minibullterriers .com
:-*
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Hi Susie
just wanted to post this :)
It shows that all affected got tested as affected, and also that there are much more free, than most of us have expected
hopefully the other ~150 in america wont decrease this "good" percentage
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Only 69 results so far but it is a very positive start, I am not surprised to be honest and I am staying very optimistic on this one :girl_wink:
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i'm very surprised that on these 69 none is affected
how many interbreds in these 69 ?
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adrian
the results are for 50 "unknown"
the other 19 have been samples of affected, tested as affected
28 free
22 carrier
0 affected
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Bin auch sehr happy... :yahoo:
könnte man bitte mal die letzten Post etwas in deutsch zusammen fassen...?
ich versteh nur die Hälfte :blush2:
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adrian
the results are for 50 "unknown"
the other 19 have been samples of affected, tested as affected
28 free
22 carrier
0 affected
yeah but 0 affected on 50 unknown
it is just some very few results from not so random i suppose.
anyway, looking forward to see how things will turn.
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This is the entire email and the great news is it's not just MBT's who will benefit from this DNA test, I would think there will be some celebrating in the dog world this weekend thumbsup
> Date: Fri, 4 Sep 2009 15:49:04
> To: <VOPH-L@LISTSERV. UGA.EDU>
> Subject: [VOPH-L] Primary Lens Luxation gene identified
>
>
> Dear All
> I have just today received word from Dr Cathryn Mellersh at the Animal
> Health Trust, Newmarket, UK that she and co-workers have succeeding in
> identifying the mutation causing Primary Lens Luxation in several breeds
> here in
> the UK. I have copied her emails (with her permission given below) for
> your
> information.
> Regards
> Stuart
>
>
> Stuart R Ellis BVSc CertVOphthal MRCVS
> Panellist
> BVA/KC/ISDS Eye Scheme
> Preston
> UK
>
>
>
>
> It with very great pleasure that I am able to tell you that we have, at
> long last, identified the mutation that causes PLL.
>
> The discovery was made by members of the AHT canine genetics team, in
> collaboration with David Sargan's research group (Cambridge University)
> and
> David Gould (Davies Veterinary Specialists) .
>
> We had hoped to be able to offer breeders a linkage test before the end
> of
> the year, but in fact the DNA test that will shortly be made available
> will be based on the exact mutation that causes this horrible condition
> so
> will considerably more accurate.
>
> Brief details will be placed on our website by the end of the day and the
> test will hopefully be availaible by the end of October 2009.
>
> Please note - the test is not available yet. We will make full details
> available as soon as all details have been finalised.
>
> We will also provide full information on how to request results for dogs
> whose samples contributed to the research.
>
> Please watch our website for full details as they emerge.
>
> Over the coming days and weeks we will be formally notifying all relevant
> Breed Club secretaries and health Co-ordinators but please feel free to
> share this exciting news with whoever you like.
>
> I would personally like to thank all of you who have worked with me
> tirelessly over the years on this project, providing samples, information
> &
> support. It is announcements like this that make my job so rewarding.
>
>
> ************ ********* ********
>
>
> Dear Cathryn
> That is fantastic news, well done to all concerned. The breeders will be
> very grateful. Does this apply to all the breeds known to be affected?
> Kind regards
> Stuart
>
>
> ************ ********* ********
>
>
> Hi Stuart,
>
> So far we've found the mutation in Mini bulls, lancashire Heelers, Jack
> russells, parson russells, patterdales, Sealyham terriers, Tibetan
> terriers
> and Chinese crested dogs. We also tested PLL affected Border collies,
> Lhasa
> Apsos, Shar peis and Cockers but they didn't have the mutation, so
> presumably they have a different genetics basis to their PLL and the test
> won't be
> applicable to them.
>
> Now we have the mutation it will be very easy to test any PLL affected
> dog
> of any other breed, to see if it shares the mutation, so should you come
> across anything wild & wonderful with PLL please send us a swab.
>
> We're very happy with this result. Its be a long, community effort but
> we
> got there in the end.
>
> Best wishes
>
> cathryn
>
> -----
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Steffi,
von 69 getesteten Hunden wurden
19 als "erkrankt" durch den Test bestätigt (wurde von den Besitzern auch so angegeben)
28 freie und
22 Träger
Ich denke und hoffe, dass diese Verteilung auch auf größeren Zahlen repräsentativ bleibt, denn die hohe Zahl der "freien" ist wundervoll und überrascht einige, wohingegen andere von solch positiven Ergebnissen ausgegangen sind.
LG
Zori
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Tadi vielen Dank!
Die letzte Mail ist so zu verstehen das der Test nicht nur für den Mini gut ist sondern für die anderen Rassen die von PLL betroffen sind auch?
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Mir fällt ein richtiger Felsbrocken vom Herzen ...
Weiß jemand, ob wir die Ergebnisse mitgeteilt bekommen? Für mich wäre es schon wichtig, so bald wie möglich zu erfahren, was nun ist.
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Hallo !
Mich würde folgendes erstmal interessieren
Bekommen die Leute die im Vorfeld Proben geschickt haben das Ergebnis von Ihren
Hunden schnellstmöglich mitgeteilt?
Ist evtl. bekannt wie die Clubs auf die zugegebener Massen plötzliche Wende vorbereitet sind
oder waren?
Wie wird sich der Test auf die momentanen Würfe,Welpen usw. auswirken? Werden alle im nachhinein
getestet und wie lange wird es ungefähr dauern?
Wird wie jemand schon in einem anderen Forum geschrieben hat eine evtl. Zuchtpause bis alles
geklärt ist stattfinden?
Werden alle Positiv getesteten Hunde aus der Zucht genommen oder wird evtl. nach ABC Verfahren
weiter gezüchtet - wie bei anderen Rassen üblich?
Sicherlich wird ein Verwaltungs und Organisationsaufwand anfallen, denn die Tests und deren Verwaltung
nicht nur alleine in der Zucht werden ja nicht gerade wenig sein.
Wird evtl. eine eigene zentrale Datenbank angelegt wobei die Ergebnisse mit in die Datenbank von
Joe einfliessen um die immer auf dem neusten Stand zu halten?
Sicherlich habe ich etliche Fragen vergessen und gehe davon aus das wir schnellstmöglich in
Chronoligischer Reihenfolge aufgeklärt werden, den nicht jeder ist der Englischen Sprache
mächtig - wobei ich hier bitten möchte auf Deutsch zu antworten und die für uns relevantesten
Dinge auch in unserer Muttersprache zu beantworten - soweit wie möglich.
LG Günter
Das wars erstmal in Kürze.
LG Günter
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Hallo !
Mich würde folgendes erstmal interessieren
Bekommen die Leute die im Vorfeld Proben geschickt haben das Ergebnis von Ihren
Hunden schnellstmöglich mitgeteilt?
erst wenn der Test fertig ist und diese per Formular angefragt werden können, also voraussichtlich nicht vor Ende Oktober
Ist evtl. bekannt wie die Clubs auf die zugegebener Massen plötzliche Wende vorbereitet sind
oder waren?
wir sind alle überrascht worden und der AHT wird den Clubs klare Anweisungen geben, wie mit dem Test zu verfahren ist und insbesondere welche Verpaarungen zulässig sind und welche nicht
Wird wie jemand schon in einem anderen Forum geschrieben hat eine evtl. Zuchtpause bis alles
geklärt ist stattfinden?
sollte jetzt wohl jeder selbst wissen und entscheiden können, oder nicht?
Oder willst du so was verbieten? Kann ich mir aber nicht vorstellen, dass die Clubs so etwas machen werden.
Werden alle Positiv getesteten Hunde aus der Zucht genommen oder wird evtl. nach ABC Verfahren
weiter gezüchtet - wie bei anderen Rassen üblich?
da wird der AHT klare Anweisungen geben, die für alle gelten sollten, in Deutschland und international
da es sich jetzt nachweislich um eine rezessive Krankheit handelt, könnte ich mir vorstellen, dass nach dem ABC-Verfahten gezüchtet werden darf.
Wird evtl. eine eigene zentrale Datenbank angelegt wobei die Ergebnisse mit in die Datenbank von
Joe einfliessen um die immer auf dem neusten Stand zu halten?
wir brauchen keine PLL-Datenbank mehr, wenn man zu 100% weiß, dass die neuen Nachkommen nicht mehr erkranken können. Man muss die Vergangenheit (Verpaarungen bis Oktober/Nov.) und die Zukunft (nach Oktober/Nov.) klar voneinander trennen.
Bei den Minis beginnt jetzt eine neue Ära oder wie es eine bekannte englische Züchterin heute in einem anderen Forum genannt hat "der take-off"!!!
Auch das "Schlechtmachen" von Linien oder Züchtern die Erkrankte hatten ist VERGANGENHEIT. Ebenso wie die Rede von "PLL-Belastungen".
Ein Thema das mit Zucht (fast) nichts zu tun hat:
Sicherlich werden wir alle noch die Vergangenheit aufarbeiten müssen, insbesondere die "PLL-Erkrankten", die jetzt dann mit dem Test feststehen werden. Alles was vielleicht in den letzten Jahren Schritt für Schritt passiert wäre kommt jetzt auf einen Schlag. 10,20,30 oder wer weiss wieviele "PLL-Erkrankte", manche mit 3 Monaten Alter, manche mit 1 Jahr oder 4 Jahren etc.
Aber auch da sollte der Dormunder Kreis (DOK) preventive Maßnahmen entwickeln, wie diese Hunde am besten behandelt werden sollten.
Es wird alles besser, als jahrelang zu bibbern und zig PLL-Untersuchungen beim Arzt zu machen.
Das PLL-Monster ist definitv besiegt und VERGANGENHEIT.
Ich freue mich auf die neue Ära des Mini, die Rasse hat jetzt eine grosse Zukunft.
Es ist ein historisches Ereignis!
Tadi
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Ich denke aber schon, dass wir weiterhin eine Datenbank brauchen! Wo gibt es denn sonst für den Zuchtinteressierten so schnell unzählige Ahnentafeln, die man ansehen kann? Und PLL ist ja auch nicht das einzigste, worauf bei der Mini-Zucht geachtet werden sollte ...
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Hallo Tadi!
Danke erstmal für die schnellen ersten Antworten.
Günter
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I don't understand the two long german posts above. ::)
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wir brauchen keine PLL-Datenbank mehr, wenn man zu 100% weiß, dass die neuen Nachkommen nicht mehr erkranken können. Man muss die Vergangenheit (Verpaarungen bis Oktober/Nov.) und die Zukunft (nach Oktober/Nov.) klar voneinander trennen.
Dies ist so nicht ganz richtig, denn 2 Träger miteinander verpaaren darf man nicht, und am übersichtlichsten wird es nun mal auf die bisherige Art
Abgesehen davon, ist es in erster Linie eine Ahnendatenbank, für die Zucht bleibt dies sehr wertvoll
Nachdem nun PLL hoffentlich Schnee von gestern sein wird (in wenigen Monaten zumindest), können wir uns evtl endlich mal auf die Haupterbkrankheiten des Bullis konzentrieren
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ich denke auch das die Datenbank unverzichtbar ist selbst wenn sie in Zukunft bei PLL eine untergeordnete Rolle spielt. Sie ist und bleibt sehr wertvoll und sollte auf jeden Fall weiter gepflegt werden.
LG Monika
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In diesem Zusammenhang hier der Link zur Spenderliste der im April 2008 gestarteten deutschen Spendenaktion für den AHT, die von allen deutschen Bulli-Foren, dem GBF und dem mbtcg unterstützt wurde:
http://www.rebel-spirit.de/PLL-Spenderliste.html
Wie uns Cathryn Mellersh geschrieben hat gebührt jedem einzelnen der Dank der zu der Forschung beitragen hat:
"Thank you for your congratulations, but everybody who has contributed in anyway at all deserves a share of the credit. This really has been a community effort.
Full details will emerge over the next days and weeks, but we are so excited we wanted to make the announcement before the weekend.
With very best wishes
Cathryn"
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We have bad news as Am Ch Evolution's High Roller, RA, CGC has just sub-luxated in May of 2009. He is the son of Evolution's Believe It or Not, who also luxated. These are the only two reported from our kennel.
The upcoming linkage based test is great news!
Thanks,
Daren Gisseman
Evolution MBT's
Utah, USA
www.evolutionskennel.net
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The upcoming linkage based test is great news!
Hi Daren
they started to develop the linkage based marker test and found the true gene mutation location
Posted on: September 08, 2009, 09:14:14 AM
New status at AHT page:
http://mbtcg.eu/btforum/index.php?topic=16770.msg225076;topicseen#msg225076
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hat schon jemand antwort bzw resultate der von ihm eingesendeten proben bekommen???
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Nein, immer noch nichts.
Habe heute den zweiten Test vom TA abnehmen und wieder in die USA verschicken lassen. Bin mal gespannt, wie lange das dauert und ob das Ergebnis eher da ist, als das vom AHT.
Ich bin ja eigentlich nicht ungeduldig, aber auf diese Ergebnisse zu warten ist echt hart.
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alice, ergebnisse aus england gibt es nicht vorm 19.10, erst dann kann man die ergebnisse anfordern
ich habe aber so eben die ersten ergebnisse aus amerika bekommen
jetzt hoffe ich noch einen php entwickler zu finden, sonst muss ich wieder mruksen, um mein rechenscipt anzupassen
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Sabine : da bin ich ja auch mal gespannt...
ja ich bin auch eher ungeduldig und hätte schon gerne das Ergebnis...aber is ja GsD nicht mehr lang hin....
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Hallo,
konnte das Ergebnis online schon mal abfragen:
Schmidpeter's Camilla, *24.04.2005 (Schardale Master Gimli x Escada The Warrior)
STATUS: CARRIER.
Joe, vielleicht willst Du das schon mal in die Datenbank aufnehmen, sobald ich etwas Schriftliches habe, schicke ich es Dir zu.
VG
Sabine
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Hallo ,
ich wollte mal fragen wie lange es bei euch gedauert hatte ab Versandtag bis das Ergebnis online war
LG
Gabi
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Wo finden Sie die Ergebnisse online?
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Wenn man den DNA Test nach Amerika schickt bekommt man eine Internetadresse mit seinen Daten und seinem Status
LG
Gabi
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Wenn man den DNA Test nach Amerika schickt bekommt man eine Internetadresse mit seinen Daten und seinem Status
LG
Gabi
OK, ich danke Ihnen. Ich dachte, die Datenbank wurde nun läuft!
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Hallo,
ich habe den Test am vergangenen Freitag per Eilpost verschickt, am Montag war es da und das Ergebnis ist von gestern.
VG
Sabine
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WOW! Das war wirklich schnell, wie lange hat es gedauert, bis die Test-Kits erhalten?
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Hallo,
konnte das Ergebnis online schon mal abfragen:
Schmidpeter's Camilla, *24.04.2005 (Schardale Master Gimli x Escada The Warrior)
STATUS: CARRIER.
Joe, vielleicht willst Du das schon mal in die Datenbank aufnehmen, sobald ich etwas Schriftliches habe, schicke ich es Dir zu.
VG
Sabine
Danke Sabine
Du kannst von der OFA Seite einen PDF Ausdruck machen, oder einen Screenshot (Druck Taste, dann zb in MSPAINT als Bild einfügen)
Notfalls kopierst Du den Text der OFA Seite einfach in eine eMail
Posted on: October 07, 2009, 02:44:07 PM
@Susie
I didnt know you speak german :)
Testkits have arrived as far as I know below one week after ordering
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Hallo Joe, ich spreche kein Deutsch, aber Google zu übersetzen, ist ein wunderbares Werkzeug :party:
http://translate.google.com/translate_t?prev=hp&hl=en&js=y&text=Feliz+Cumplea%C3%B1os+Dino%21%21%21%21+3+a%C3%B1os&file=&sl=fr&tl=en&history_state0=#en|de|
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Hi Joe,
habe es Dir auf Deine normale E-Mail geschickt. Melde Dich einfach, wenn's nicht richtig ankommt.
LG
Sabine
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Hi Sabine
ist so eben angekommen
Danke
eMail with report : jo@chaosempire.eu are welcome :)
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So jetzt habe ich noch eine Frage wenn ich von Amerika meine Internetadresse bekommen habe muß ich ja nur diese Adresse aufrufen oder ? Ich habe letzten Freitag die DNA mit Luftpost weggeschickt aber natürlich von Deutschland nach Amerika
LG
Gabi
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Mit der von Dir angegebenen eMail Adresse und einem zugesandten Code kannst Du Dich auf der Webseite einloggen und den Status sehen.
Posted on: October 08, 2009, 05:19:12 PM
Based on the current entered values we have following rounded percentage:
37% Clear
58% Carrier
5% At Risk
I assume an average value will will be more accurate when we get 200 results into the Database
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hmm i bet on something like:
30% F
60% C
10% A
which would be finally logical according to the interbreeding program, wouldnt it ?
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hee i will create a fund, all can place their bet, one half is jackpot, the other goes into next research..just heared some are looking for deafnes gene...
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I am with Adrian on result :unsure:.
I don't understand why for Mini's we need to look at deafness when very few Mini's suffer with it and many other breeds are already looking. plus it doesn't kill our dogs. I would like to see a DNA test for Hereditary Nephritis (HN), because of the mode of inheritance I really believe if enough BT's & MBT's participate it won't take long to find the DNA test, and then after HN it has to be hearts but that of course is going to be like PLL much more difficult, or maybe PKD.
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Susie
I just was told about this already running study about deafness...hmm who has told me that... :taunt:
Surely I would like to see other DNA test before
Heart, Kidney!!!, but for the moment, i already would be glad to see test results of minis that did echo doppler, UPC and kidney-ultrasound
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when you have a look at the first results, it appears that there isnt many "good" studs with a "clear" status
of course most of the tested are bitches (in fact around 30% are some males) but finally i see only 3 or 4 nice dogs at the moment... (i dont include mine in as he is too big for most of the bitches i know)
it seems that "we" are going to run after the same studs
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so where is the difference before and after :)
Posted on: October 10, 2009, 07:58:52 PM
37% Clear
58% Carrier
5% At Risk
few dogs later it looks like (63results):
36.5%
58.75%
4.75%
Posted on: October 11, 2009, 01:51:05 PM
Btw: Based on all entered Minis (which is surely not a complete list)
we have 4.63% Affected
12,3% are known to be at least carrier(detected based on the affected ones and dna results) 2 carriers are parents, one in average a child, here is the issues cause of a non complete database...else we would have more carrier entries already
the average litter size is somewhat between 4-5, so we will end up at ~ 30%carriers based on affected...
missing still all carriers based on matings without non affected parents
the germany vets have a statistic, there is also ~5% affected, so it seems that this could be the limit for affected ones
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was just to go on with the debate :buba:
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hi adrian
thats what i m waiting for...
a debate about breeding, if we will really have 2/3 minis with at least one copy of the gene
the free one will be very valueable
but susie has posted an interesting article, i read month ago, but i only readed it cause of multimating one dame idea, missed some other points in the article
lets hope we will have more clear females than males, as most stud dogs have more matings than females will have litters...
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Does it matter ?
You can still use carrier males to clear bitches, or for our country we can still use affected males to Bull terrier bitches, as long as we DONT breed any more AFFECTEDS
SO no more affected to carrier , carrier to carrier or affected to affected these will have a definate outcome
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very good said, Julie!
also my opinion.
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Both, OFA and AHT, say the same, there is a little rest risk for CARRIER's to get luxated
They cant explain why it is that way, but this is the result of their research
So, if we have the possibility to do a Clear+Clear mating, we shall do it, but surely we can also do Clear+Affected matings, getting a litter with "Low Risk Carrier's"
OFA says 5-10%, AHT says 2-20% risk to get affected for a CARRIER (one single copy of the gene) while assuming it will be more near to 2% than to 20%
So we will have to do further PLL Testing at an eye specialist, also if the dog is tested as Carrier
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know that discussion since some months, but there are only few such cases
so some questions arise:
1. Could it also be SLL (secondary lense luxation) or accidents etc.?
2. Could It be that this some "luxated CARRIERS" in reality have someting other but not "genetic PLL" or perhaps there was a misdiagnosis by eye-vet?
3. If a dog is CARRIER he has only one copy of the mutant gene. So he can have also "free" offspring as well, or not?
Would be interesting to see some official statements from OFA and AHT.
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tadi, this is what i think too,
new results in the database, now we have 80 results
current percentage
also i remember, i need the results AND pedigree info...
Posted on: October 14, 2009, 01:13:25 AM
Just wanted to post the meaning of words in the database
seems that already some people are coonfused by the word Luxation (DNA)
PLL: Free (DNA) = Mini with result CLEAR so no copies of the PLL gene at all
PLL: Carrier (DNA) = Mini with result CARRIER / Low Risk so ONE copy of the PLL gene
PLL: Luxation (DNA) = Mini with result AT RISK so TWO copies of the PLL gene
As AHT/OFA state there is a low risk that carriers will get affected, and also there is a chance that a dog AT RISK will never get affected, so hope this stops all confusion
I asked Bryan at the AHT and this is his reply, which does help make a little more sense of it all.
Hi Susie,
It seems you're not alone in the confusion caused by this.
Classically, geneticists, clinicians, and breeders alike have always spoke of dominant and recessive hereditary conditions. In most cases it holds true, such as coat colour variations, but more and more as new DNA tests are developed we are finding that carriers can also become clinically affected. This could be for a number of reasons such as environmental factors, I'll try and explain this below. It's difficult to estimate the percentage risk until you can look across thousands of results, as at the moment we have a statistical risk factor for PLL carriers developing the condition between 2 and 20%. We believe this figure to be closer to the 2% figure, and hopefully we'll see that affect once we've tested lots more individuals.
The dog has 78 chromosomes, and these can be split into 38 identical pairs (autosomal), plus two sex chromosomes (XX or XY).
On each of the autosomal pairs there are two copies of that dogs genetic information (genes).
If there is no mutation present on either side, then the dog would be designated [wild type/wild type] or genetically normal for a particular condition. Both "wild type" genes would have the correct information to complete it's function such as protein manufacture.
In the case of a carrier [wild type/mutant] there is a mutation on one of the chromosome pairs and therefore the protein produced by information on one side is different in some way to that of the other. The mutant protein can still have some functionality, and usually this is okay because you still have one chromosome in the pair that has the correct information, but this won't always be good enough for the job required.
In the case of [mutant/mutant] the gene's functionality will either be severely compromised or not serve it's purpose at all.
For PLL the mutation produces a shorter protein than it should. Therefore in a carrier you have normal length and short proteins being produced, which depending on environmental factors can have a greater or lesser consequence. This is not definitive and is still open for further investigation, but if the bonds that hold the lens in place are already partially weakened by genetics and considerations such as diet, body condition and trauma play their role, then unfortunately a carrier can easily become clinically affected.
This would also apply to those dogs with two mutant copies, as the shorter protein will still manage to do the intended job, but just not as well.
I hope this makes some sort of sense, and will help you to understand the nature of this PLL-DNA test.
Best regards,
Bryan McLaughlin
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I personally think it is to cover the butts if a carrier luxates . Remember any dog can luxate due to injury etc. I agree with Tadi. He is a link that some might find useful, it gives an easy to read guide based on the mendelin theory
http://www.gtpets.com.au/dnatesting/breedingstrategies.php
If we do not use our carriers we might as well stop breeding now as i really think we are going to have a huge amount of carriers
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I am with Adrian on result :unsure:.
I don't understand why for Mini's we need to look at deafness when very few Mini's suffer with it and many other breeds are already looking. plus it doesn't kill our dogs. I would like to see a DNA test for Hereditary Nephritis (HN), because of the mode of inheritance I really believe if enough BT's & MBT's participate it won't take long to find the DNA test, and then after HN it has to be hearts but that of course is going to be like PLL much more difficult, or maybe PKD.
it is correct.
but i think deafness is a much bigger problem at the Standard Bullterriers than anyone would admit
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there are several cases of half/deaf minis around
the issue..mostly they are keept silent...
110 DNA Tested Dogs
44 Free / 60 Carrier / 6 At Risk
40,00 % Free / 54,55 % Carrier / 5,45 % At Risk
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The AHT has opened the doors...
DNA Test can be ordered via this form:
http://www.aht.org.uk/pdf/pllform.pdf
If you have send DNA for research you can order your results via this form:
http://www.aht.org.uk/pdf/pllresult.pdf
Geneticists identify a mutation for Primary Lens Luxation (PLL) in several breeds.
(September 2009)
A mutation responsible for the development of primary lens luxation in many breeds of dogs has been identified by geneticists working in the Kennel Club Genetics Centre at the Animal Health Trust, led by Dr Cathryn Mellersh, in collaboration with Dr David Sargan (Cambridge University) and Dr David Gould (Davies Veterinary Specialists).
Primary Lens Luxation (PLL) is a well-recognised, painful and blinding inherited eye condition that affects many breeds of dog. In affected dogs the zonular fibres that support the lens breakdown or disintegrate, causing the lens to fall into the wrong position within the eye. If the lens falls into the anterior chamber of the eye glaucoma and loss of vision can quickly result.
The team of scientists have identified a mutation that is responsible for the development of PLL in several breeds, including the Miniature Bull Terrier, the Lancashire Heeler, Tibetan Terrier, the Jack Russell Terrier, the Parson Russell Terrier, the Patterdale Terrier, the Sealyham Terrier and the Chinese Crested dog.
A DNA test will be available from Monday 19th October, 2009.
PLEASE NOTE – We have limited resources and regret that we are are unable to consider any requests for this test before October 19th, without exception, and cannot issue any testing kits before that date. Testing kits can be requested by e-mail on or after October 19th to swab.request@aht.org.uk. If you do not have access to email please telephone 01638 555621 or fax 01638 555666.
The DNA test can be used to determine a dog’s genotype with respect to this mutation. Dogs will be identified as CLEAR (has two normal copies of the gene), CARRIER (has one normal copy and one mutated copy) and AFFECTED (has two copies of the mutation). Breeders will be given an estimate of each dog’s risk of developing PLL depending on their genotype and will be able to make sensible breeding decisions that minimise the risk of producing dogs that will become affected by this serious and debilitating condition.
Breeders and owners will be able to test their dogs using a simple test kit that will be available from October 19th, 2009. It will be possible to collect DNA from dogs to be tested via a simple cheek swab which will be included in the test kit, along with all information, necessary forms and full instructions, please click on link http://www.aht.org.uk/genetics_tests.html#canine.
Owners who submitted samples for the PLL research prior to September 1, 2009 may request test results using a form that will become available on this website on October 19th, 2009. Click on link for form http://www.aht.org.uk/pdf/pllresult.pdf
We would like to sincerely thank all the many owners and breeders, from all over the world, who have contributed DNA and information from their dogs to this project. This discovery would not have been possible without them. We would also like to thank everybody who has made a financial donation to support the research.
Primary Lens Luxation
Primary Lens Luxation (PLL) is a well-recognised, painful and blinding inherited eye condition that affects many breeds of dog. In affected dogs the zonular fibres that support the lens breakdown or disintegrate, causing the lens to fall into the wrong position within the eye. If the lens falls into the anterior chamber of the eye glaucoma and loss of vision can quickly result.
Scientists at the AHT have identified a mutation that is associated with the development of PLL in several breeds of dog. The DNA test we are now offering examines the DNA from each dog being tested for the presence or absence of this precise mutation. It is thus a ‘mutation-based test’ and not a ‘linkage-based test’.
Breeders will be sent results identifying their dog as belonging to one of three categories:
CLEAR: these dogs have two normal copies of DNA. Our research has demonstrated clear dogs will not develop PLL as a result of the mutation we are testing for, although we cannot exclude the possibility they might develop PLL due to other causes, such as trauma or the effects of other, unidentified mutations.
CARRIER: these dogs have one copy of the mutation and one normal copy of DNA. Our research has demonstrated that carriers have a very low risk of developing PLL. The majority of carriers do not develop PLL during their lives but a small percentage do. We currently estimate that between 2% – 20% of carriers will develop the condition, although we believe the true percentage is nearer to 2% than 20%. We do not currently know why some carriers develop the condition whereas the majority do not, and we advise that all carriers have their eyes examined by a veterinary ophthalmologist every 6- 12 months, from the age of 2, throughout their entire lives.
GENETICALLY AFFECTED: these dogs have two copies of the mutation and will almost certainly develop PLL during their lifetime. We advise that all genetically affected dogs have their eyes examined by a veterinary ophthalmologist every 6 months, from the age of 18 months, so the clinical signs of PLL are detected as early as possible.
Breeding Advice
Our research has also demonstrated that the frequency of the PLL mutation is extremely high in most breeds. This means that allowing only CLEAR dogs to breed could have a devastating effect on breed diversity and substantially increase the likelihood of new inherited diseases emerging. Therefore, we strongly advise breeders to consider all their dogs for breeding, regardless of their PLL genotype. GENETICALLY AFFECTED and CARRIER dogs can be bred with, but should only be bred to DNA tested, CLEAR dogs. All puppies from any litter that has at least one CARRIER parent should be DNA tested, so that the CARRIERS can be identified and followed clinically throughout their lives. This practise should be followed for at least one or two generations, to allow the PLL mutation to be slowly eliminated from the population without severely reducing the genetic diversity of breeds at risk.
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 +44 (0)1638 555621 or via e-mail to swabrequest@aht.org.uk. The price of the test is £40, which includes both VAT and the cost of the sampling kit. Further information can be obtained by e-mailing dnatesting@aht.org.uk
will
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Anyone who can spell it in German?
I unterstand not really all Posts.... :(
and I have a question ...what does it mean on the Form payable cheque? how can I pay the Certificate?
And can I send the Form online or must it be send by Paper Mail?
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you can pay with credit card
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And How? and how to work with the form?
I do not look through
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You can also pay through your internet bank or normal bank office. Please se info below:
BANK TRANSFERS - our bank details are as follows:
NATIONAL WESTMINSTER BANK PLC
18 HIGH STREET
NEWMARKET
SUFFOLK
ENGLAND CB8 8LH
Name: ANIMAL HEALTH TRUST
Sort Code: 60-15-47 Account Number: 66271223
Swift Code NWBKGB2L IBAN : GB78NWBK 601547 66271223
Please quote your account number on all payments - S0173 and dog (s) name
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Thanks for this Info...
i send yesterday two Forms to the AHT ....
one with the Request for the Result
and the other for Payment with Creditcard
And now I hope i will get the Result quickly ;)
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Hallo ,
ich hätte mal eine Frage auf der Seite von Amerika gibt es eine PLL Statistik in der beim Mini 4 Ergebnisse gibt " Clear ,Carrier ,At Risk und Total abnormal
was bedeutet das jetzt was bedeuten die einzelnen Ergebnisse ????????
LG
Gabi
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hast du einen link dahin?
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Das is ne interessante Frage ..würde mich auch interessieren wie man das zu verstehen hat...
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So hier ist der Link
http://www.offa.org/dnateststats.html?test=PLL
Posted on: Oktober 20, 2009, 10:56:46
Als ich das gesehen habe verstehe ich überhaupt nichts mehr und bin noch mehr verunsichert wie vorher ich finde leider auch keinerlei Erklärungen für diese Ergebnisse und was sie zu bedeuten haben
vielleicht habt Ihr eine Erklärung dafür und könnt mich aufklären
LG
Gabi
Posted on: Oktober 20, 2009, 11:03:23
Ich habs selber rausgefunden das sind die Carrier und die At Risk zusammen oder ??
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genau
at risk + carrier ergibt genau die anzahl der hunde, die min ein mutiertes gen haben
hier die aktuelle statistik der mir bekannten hunde
(sprich es gab ein update)
119 DNA Tested Dogs
52 Free / 61 Carrier / 6 At Risk
43,70 % Free / 51,26 % Carrier / 5,04 % At Risk
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Today the results on OFA are as stated below. Joe are you also using results that are not on OFA but coming from breeders/owners and AHT?
MINIATURE BULL TERRIER
CARRIER 76 54%
CLEAR 46 33%
AT RISK 18 13%
TOTAL TESTED 140
Only 18 out of 140 dogs will get PLL (At risk dogs)!
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Astrid i use every dog result i can get
Mostly are still by OFA as AHT results are coming up now in next days
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Naja...gut..aber ich hab das jetzt noch nicht wirklich verstanden mit den 4 Ergebnissen...
was bedeutet das jetzt genau`?
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Today the results on OFA are as stated below. Joe are you also using results that are not on OFA but coming from breeders/owners and AHT?
MINIATURE BULL TERRIER
CARRIER 76 54%
CLEAR 46 33%
AT RISK 18 13%
TOTAL TESTED 140
Only 18 out of 140 dogs will get PLL (At risk dogs)!
i cant find where you see 140 dogs ?
i see 62 minis on the ofa
and 122 here
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@adrian http://www.offa.org/dnateststats.html?test=PLL
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Astrid i use every dog result i can get
Mostly are still by OFA as AHT results are coming up now in next days
Great! Thanks.
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@adrian http://www.offa.org/dnateststats.html?test=PLL
thanks
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137 DNA Tested Dogs
58 Free / 70 Carrier / 9 At Risk
42,34 % Free / 51,09 % Carrier / 6,57 % At Risk
Posted on: October 22, 2009, 10:22:16 PM
152 DNA Tested Dogs
63 Free / 79 Carrier / 10 At Risk
41,45 % Free / 51,97 % Carrier / 6,58 % At Risk
Posted on: October 23, 2009, 11:44:53 PM
176 DNA Tested Dogs
68 Free / 92 Carrier / 16 At Risk
38,64 % Free / 52,27 % Carrier / 9,09 % At Risk
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the last news are terrible...
anyway thanks to the owners/breeders to share the info
my thoughts to the "affected" ..
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so afraid to open my mail box.....
look at this pedigree...Bisbull's Very hot Dog :scratch_ones_head: :scratch_ones_head: :scratch_ones_head:
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Congratulation Namleg
Had a look a the pedigree from Bisbull's Very hot Dog, it says the the father has luxated. I was from the the belive that a affected mated with a clear, would bring the outcome poor carrier.....So maybe he has not luxated? Or is this a proof for something else, then what we have been told sofare?
I'm happy for your result...great :)
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"I'm happy for your result...great Smiley"
i still dont have my results!!!! and i'm really afraid of them - one parent luxated and one carrier :-{{
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Igal, I cross all my fingers for you and your girls !
@Adrien: yes, news are really worriyng and sad :(
Zori
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Congratulation Namleg
Had a look a the pedigree from Bisbull's Very hot Dog, it says the the father has luxated. I was from the the belive that a affected mated with a clear, would bring the outcome poor carrier.....So maybe he has not luxated? Or is this a proof for something else, then what we have been told sofare?
I'm happy for your result...great :)
The father will get DNA tested, maybe he is wrong diagnosed or affected by Secondary LL or maybe he is one of those low risk carriers who get affected
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thanks Zori , i need it...
it was nice meeting you, hope you had good time.
btw- you should empty your inbox :-}}
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oh forgot to tell you,
you can add:
Bianca des Fleurs des Anges => carrier
and one Cassius' daughter:
Massalias' Ebony and Ivory (white with black in head) dob 31.03.2009 => carrier
(s) cassius du domaine d'yspahan (d) fidji du mas des reves (same pedigree than faustine du mas des reves, they are littermate)
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202 DNA Tested Dogs
75 Free / 108 Carrier / 19 At Risk
37,13 % Free / 53,47 % Carrier / 9,41 % At Risk
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Roxanne the Warrior - This dog is affected by PRIMARY LENS LUXATION
:( :( :(
still waiting for cheynes results...
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Oh Igal , words cannot explain how sorry I am! Hugs to you and your girl!
Btw: I will make space in my inbox.
Zori
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206 DNA Tested Dogs
75 Free / 111 Carrier / 20 At Risk
36,41 % Free / 53,88 % Carrier / 9,71 % At Risk
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Couscous The Mini Warriors - This dog is CLEAR of PRIMARY LENS LUXATION
:tbt: :tbt: :tbt:
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Good news Igal, I´m so happy for you.
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The result for your DNA test is:
Baron Vom Limeshain - This dog is CLEAR of PRIMARY LENS LUXATION
:party:
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Great News Igal and Basti :girl_dance:
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Gummibullens Kizzy Gulliver "Ester" has been DNA PLL tested CLEAR.
I am sooo happy!!!
Sire: Gummibullens Jack Gulliver
Dam: Gummibullens Isabella Gulliver
DOB: 2004.11.26
Ester is also health tested for:
Patella: 0/0
Heart: OK
Eyes: OK
Kidneys: OK
Skindiseas: OK
She is also mentally tested (MH) with excellent results.
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Great..
I am happy for you....
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238 DNA Tested Dogs
95 Free / 123 Carrier / 20 At Risk
39,92 % Free / 51,68 % Carrier / 8,40 % At Risk
Posted on: October 27, 2009, 10:50:23 PM
Newest OFA statistic:
MINIATURE BULL TERRIER
CARRIER 94 56%
CLEAR 54 32%
AT RISK 21 12%
TOTAL ABNORMAL 115 68% (Carrier + At Risk)
TOTAL TESTED 169
Posted on: October 27, 2009, 11:39:54 PM
Next database update available:
300 DNA Tested Dogs
121 Free / 153 Carrier / 26 At Risk
40,33 % Free / 51,00 % Carrier / 8,67 % At Risk
OFA Stats
MINIATURE BULL TERRIER
CARRIER 116 56%
CLEAR 67 32%
AT RISK 24 12%
TOTAL ABNORMAL 140 68%
TOTAL TESTED 207
Posted on: October 28, 2009, 10:21:35 PM
Germany Stats
Clear 41.5%
Carrier 52%
At Risk 6.5%
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You added a new bitch for Cassius mother: U'Born = Born
one more time thanks to people who share their results
thanks Joe for the daily update
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thnks adrian bully star is also doubled...will fix this
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I post for Ruth Eyers @ Balgay, Victoria, Australia
Ch Stardom Up Boyz ROM ==> CLEAR
s: Ch Stardom Bad Boyz d: Stardom Bella Vista
Aelfhere Cool as Ice (interbreed) ==> CLEAR
s: Ch Maolmhin African Ice d: Aelfhere Lil Eclipse
Balgay Stardust (interbreed) ==> CLEAR
s: Ch Stardom Up Boyz ROM d: a Shirvin BT that i forgot the pedigree name..
for Monique Gilberto @ Revhed, Victoria, Australia
Aldridge Crimson Tide (interbreed) ==> CLEAR
s: Ch Sugarbaye off Daikini d: Ch Bullesquire Begfa Mercy
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thanks for posting adrien
balgay stardust if from shirvin aim to please
i have now got my final result back for my 4 minis AND
pagwin little big man - C L E A R
sire melarbro me brudda dam gragal zeena
to have a 100 per cent clear is just unbelievable i feel particularly when only two are related
ruth @ balgay
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Congrats Ruth!
New Database Stats:
357 DNA Tested Dogs
146 Free / 179 Carrier / 32 At Risk
40,90 % Free / 50,14 % Carrier / 8,96 % At Risk
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Dear Sir/Madam,
The result for your DNA test is:
Quigley The Warrior - This dog is CLEAR of PRIMARY LENS LUXATION
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378 DNA Tested Dogs
158 Free / 188 Carrier / 32 At Risk
41,80 % Free / 49,74 % Carrier / 8,47 % At Risk
Posted on: November 04, 2009, 02:42:16 PM
New values and a little fix in calculation, one more free by analyze :)
422 DNA Tested Dogs
177 Free / 207 Carrier / 38 At Risk
41,94 % Free / 49,05 % Carrier / 9,00 % At Risk
OFA Values
MINIATURE BULL TERRIER
CLEAR 80 32%
CARRIER 139 55%
AT RISK 32 13%
TOTAL ABNORMAL 171 68% (Summe At Risk + Carrier)
TOTAL TESTED 251
Posted on: November 07, 2009, 10:29:50 AM
467 DNA Tested Dogs
201 Free / 228 Carrier / 38 At Risk
43,04 % Free / 48,82 % Carrier / 8,14 % At Risk
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Hallöchen an alles MINIBULLY Freunde,
Stone Cold´s Dirty Diana wurde bei der PLL DNA Test mit dem Results: CARRIER (TRÄGER) festgestellt...!
LG ISO
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OFA 12.11.2009
MINIATURE BULL TERRIER
CARRIER 190 56%
CLEAR 108 32%
AT RISK 44 13%
TOTAL ABNORMAL 234 68%
TOTAL TESTED 342
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Hello Joe,
Why is there such difference for at risk (by you about 9%, by OFA 13%)? That do you think about it?
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OFA stats contain all tested dog results
OFA only publishes in their database ALL free, and if you checked the permission check box, they also publish the carrier/at risk cases
Not all people check this box
Begin of this week there were ~80 dogs not published
AHT does not publish stats, so I dont know how many dogs are already tested
I expect also the values a little bit better there, cause more interbreds get tested there
My database contains all published data (that I found, so mainly based on some forum and direct eMail)
When I copy data from OFA database, I get all the free, but not all carrier/at risk
result..my percentage looks better than they are in fact
therefore i also quote the stats from america, so anyone can see the difference...
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Thanks Joe,
How do you estimate our breed dogs quantity now?
What do percentage have DNA test already?
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The quantity of breed dogs would be the same as before
you even CAN breed an AT RISK dog
The question is, will you do that...
What do percentage have DNA test already?
Good question...based on dogs in breeding, retired breed dogs, or all dogs...
Will every breeder test their dogs?
Will all owners test their dogs
Will older dogs get tested too?
Will affected dogs get re-tested to see if they are really affected by PLL
If you can answer any of this question, please tell me 6 numbers between 1-49 and I will play lotteries this weekend :)
I even cant assume a percentage for this, but I surely will only breed with tested dogs
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No, Joe.
I have asked about estimation of quantity of dogs in breed.
I am interested about statistics reliability.
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Have you made any statistical updates recently?
You used to have the OFA and AHT numbers also in the database, but I can't find it anymore? Has it been removed or am I blind? ::)
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http://mbtcg.eu
its on the main page