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UPDATED
MAY 2010
DNA collection for
research into hereditary cataracts.
After discussion, it has been decided that the inclusion of the
Alaskan Malamute in the current AHT research project into the
genetics of hereditary cataracts will be supported by the AMCUK.
This research project is excellent news for the breed and means
that, hopefully, we will eventually identify the mode of
inheritance of HC, specifically in Malamutes. This knowledge
will be the starting point from which we should be able to more
effectively manage the occurrence of the condition within the
gene pool and, who knows, with the right ongoing support maybe
even eradicate it altogether.
And it doesn’t stop there.
As well as collecting the necessary DNA samples to achieve this
initial aim of ‘discovery’, it is intended that we also use this
opportunity to build a databank of Malamute DNA that can be used
for on-going HC research, and also future research into other
inherited conditions. Though this databank will technically come
under the ownership of the AHT, it will be jointly maintained by
the AHT and the AMCUK throughout its life of scientific
usefulness, and its existence will essentially be for the
benefit of the future health of the breed.
The first stage of the project is the collection of the DNA
samples and this will be via a simple mouth swab. The kits for
this are currently being procured and it is intended that they
will initially be available at the Club Show. As there are
certain limitations to the kits use (such as no food for two
hours prior to the sample being taken - a bit of a problem with
those that bait!) and the fact that the Club Show will be more
then sufficiently busy already, it has been decided that, rather
than take the samples on the day, the kits will be issued for
‘home use’.
The kits are very easy to use and come with full instructions,
along with packaging for return to the AHT.
There is also a form to complete and return with each sample and
the more information you are able to provide, the more useful
the DNA sample will be, especially to the initial HC research.
However, as long as the dog is KC registered, all DNA samples,
regardless of the amount of supportive information available,
will be gratefully received and will be of considerable value to
the long-term research objectives.
There is, of course, a cost.
The actual research is expensive and the AHT has already secured
the funding for this. The cost of producing and distributing the
sample packs, and then processing and storing the samples, is
£5.00 per dog and we are asking for a donation from participants
to help cover this.
This research is going of be of considerable benefit to the
future of the breed and I would hope that what is a relatively
small contribution will not a restraining factor. However,
exceptional circumstances will obviously be taken into
consideration and, as such, I do not want anyone to feel
precluded for any reason whatsoever.
I am far from an expert in genetic research but I will now
attempt to ‘translate’ what will happen next, as explained to me
by the AHT.
The DNA samples will fall into three categories:
1. Those from dogs that have tested positive for HC
2. Those from dogs tested clear
3. Those from dogs not tested
These samples will then be used in the following way:
Firstly the AHT will undertake a Whole Genome Scan to compare
the DNA from the affected dogs (the ‘cases’) with that of the
dogs clinically tested as clear (the ‘controls’). From this they
hope to identify a region, or regions, of the genome that is
identical in the ‘cases’ and different in the ‘controls’. They
expect these regions to harbour the mutations responsible for
the development of HC and then further experiments will be
necessary to examine these associated regions in depth, and to
eventually identify the precise mutations responsible.
This process has been simplified and speeded up the mapping of
the canine genome (at huge cost) and the fact that this has been
made available for scientific research on a world-wide basis.
Once the mutations associated with this particular inherited
condition have been identified, it will be important to have
‘random’ samples with which to estimate the frequency of the
mutation within the breed, and this is where the samples in
category 3 will come into use.
In the longer term, it will be important that the information
relating to the DNA databank is maintained, especially where
there are changes in the conditions of individual donor animals.
For this the AHT and the AMCUK are jointly developing a short
questionnaire that will be sent to all donors annually in order
to ensure that any changes can be catalogued and applied
accordingly to any ongoing or future research.
Whilst this project is essentially an AMCUK initiative, it is
for the benefit of the breed and participation is open to Club
members and non-members alike.
If you would like to take part please let me know (If you have
already indicated that you would like to take part and still
wish to do so, it would be useful of you could confirm this, and
likewise if you wish to withdraw).
Please also let me know if you are attending the Club Show and
can collect your kit(s) there.
If you are not attending the Club Show, please send me your
details (your name and address along with the kennel name, date
of birth and sample category of each of the dogs) and I will
arrange for the kit(s) to be sent to you.
If you have any questions at all, please contact me. If I don’t
have the answer, I will find it!
Mike John
AMCUK Committee Chairman
mikejohn104@yahoo.co.uk
Clarification of the AHT/AMCUK DNA collection costs
There appears to be a degree of confusion regarding the cost of
the DNA testing kits for the AHT/AMCUK project.
The AHT, in conjunction with a counterpart in Finland, has for
some time now been carrying out research into hereditary
cataracts in ‘Northern Breeds’ and has been gathering DNA
samples from a wide spectrum of sources (including Malamutes,
for which they have so far gathered 18 samples). However, this
research is quite general.
I approached the AHT with the suggestion of breed-specific
research, to which they have agreed, a decision that was
influenced by our ability to gather and co-ordinate a sizable
number of single-breed samples from a diverse gene pool in a
relatively short period of time.
However, and there is always a ‘however’, bearing in mind the
considerable costs involved, along with the potential number of
participants, plus the fact that, in the longer term, there are
storage and maintenance costs involved, it was decided that the
AMCUK would underwrite the cost of gathering the samples
initially, and then storing them and maintaining their
scientific significance through the continuous updating of the
initial clinical information.
He cost of this has been set at £5 per sample and we are asking
for a ‘donation’ of this amount from all participants.
This seems to be a very small price to pay for what has the
potential to be a major development in the future health of our
breed.
AMCUK/AHT Research Update
Since launching the AMCUK/AHT programme at the Club Show on
September the 26th 2009 a total of 113 DNA testing kits have
been issued to Malamute owners around the country.
This is a terrific response to our call for Malamute DNA for the
AHT to, hopefully, find the mode of inheritance of hereditary
cataracts in Malamutes, and it is a massive step forward.
But it is far from over - we will continue to provide testing
kits to anyone who has not, as yet, joined in and would like to
do so.
The Club is now building the database of all the information
that has been provided, which is important for two reasons -
firstly to ensure the variety of samples is of sufficient
diversity across the various clinical categories for the AHT
research to be successful and, secondly, in order for the
long-term following-up of information, which is important for
the ongoing research, to be carried out efficiently and
correctly.
As such, would all participants please make sure the essential
information is returned to Mike John as soon as possible.
The next stage, once the database is complete, will be to
compare the actual levels of samples provided within each
category against the required levels, and then ‘top up’ any
short-falls, should there be any.
More information (and testing kits) will be available at the
forthcoming breed health seminar on November the 21st.
HC RESEARCH UPDATE - 12/5/10
The AMCUK/AHT research into hereditary cataracts in Alaskan
Malamutes is progressing and to-date a total of 152 DNA test
kits have been sent out, of which 83 have been returned to the
AHT.
This is a great achievement, and a major step towards the
original objective of finding the mode of inheritance of HC in
Malamutes. It is also excellent news for the long-term plan of
building a sizeable databank of Alaskan Malamute DNA in order
for the AHT to continue to carry out research into a variety of
hereditary conditions.
However, in order to fulfil the primary aim, we still need
samples from the two ‘critical areas’, these being dogs
confirmed as affected by HC and older dogs that have tested
clear.
The most difficult category is the ‘older dogs’ one as, for the
obvious reasons, people tend not to continue eye testing beyond
the breeding ages, but this has just become a whole lot easier
as the AHT have relaxed the requirements:
Samples from older dogs that DO NOT have a current, valid eye
certificate can now be submitted for this category provided they
were tested as clear of HC at the age of six.
This is an extremely important change to the requirements and
will enable us to fulfil the numbers needed for this category
with considerably more ease than was originally anticipated.
If you have a dog aged over six that does not have a current,
valid eye test certificate but was tested clear at the age of
six, and you have not yet submitted a DNA sample to the AHT,
please, please do so now. Your help will be extremely valuable
towards the success of this research project.
Equally, if you have a dog of any age that has been tested and
is affected by HC, and have not yet submitted a sample, your
input will also be extremely valuable to the research, so please
join in.
The AMCUK still has test kits available for those that need
them.
Contact Mike John at
mikejohn104@yahoo.co.uk
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