[Jacob-list] Jacob-list] Tay-Sachs in Jacob sheep - more carriers

[gotothewhip at aol.com]

-----Original Message-----
From: gotothewhip at aol.com
To: Jacobflock at aol.com
Sent: Thu, Dec 10, 2009 6:48 pm
Subject: Re: [Jacob-list] Tay-Sachs in Jacob sheep - more carriers


Good information Fred!  It is encouraging to see progress in this research, both for the Humans and our breed!
 
As most of you know we had a lamb born this year that wasn't quite right.  "Wobbles" was tested for Tau-Sachs and was negative (We had him checked for everything under the sun at necropsy, and numerous vet visits before)  
 
I will say that CSU was so cooperative, and excited to help out Dr Kolodny with blood and tissue.  We used purple top tubes, as well as sending in organ samples after he was euthanised.
 
This is definitely something that is so important to our breed as well as the big picture.
 
BTW, the best guess diagnosis on Wobbles is Copper DEFICIENCY (not toxicity)
 
Jennifer Tucker
Moose Mtn Ranch
Bennett, CO



-----Original Message-----
From: Jacobflock at aol.com
To: jacob-list at jacobsheep.com
Sent: Thu, Dec 10, 2009 6:05 pm
Subject: [Jacob-list] Tay-Sachs in Jacob sheep - more carriers


Dear listers:
 
Some may recall my earlier post on Tay-Sachs in Jacobs and some may have read the article in the ALBC newsletter.  At the time, the source ram at the top of the pyramid was Turner 183K.  Within the past six weeks another flock has turned up with carriers which come through the Lasseau and Fieldwood lines.  Not all sheep in these lines are carriers of course and these lines should be conserved.  Don't panic. Don't send your sheep to the knacker because a few carriers came from through these lines.  We kept probable carriers, based on pedigree records, for ten years waiting for a test and diagnosis.  Now we know the real background of each sheep and which are clear, which are carriers.  Each group is on a separate breeding program.
 
Please clearly understand that this is a simple recessive mutated gene and the presentation of affected lambs which would die at about six months is rather low unless one's flock has a lot of breeding ewe carriers.. and a carrier ram.  The mutant gene codes for hexosominidase A (hex A) and the decoding of the entire sequence of this gene showed that it was 86% identical to the human hex A gene and in Jacobs, is only one nucleotide base different than a non-carrier, normal sheep. 
 
Who might look for the mutant gene?  Breeders, perhaps somewhat limited by geography, who are along the East coast may have a higher probability of carriers with sheep from these lines but this is not a limitation. There have been pedigree errors .. some precede the JSBA and JSC records.
 
This latest finding of carriers involved several ewes and a ram lamb.  The breeder siad that they could not recall having an affected lamb over the six years they have had their flock.  I would encourage breeders who have Jacobs out of these lines to take advantage of the free test materials, it can be done by cheek swab or lancet (vs. blood draw in a purple top tube), the test for the mutant gene takes about ten days and is free, and you can remain anonymous.  Please contact Edwin.Kolodny at nyumc.org if you want to support the breed and possibly help a child and his/her family ... better yet, reverse the reasons for contacting Dr. Kolodny.   
 
There may be more on this in an upcoming ALBC newsletter.   
 
Fred Horak
St. Jude's Farm
1165 E. Lucas Rd.
Lucas, TX   75002-7455

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