[Jacob-list] G444R mutation (Tay-Sachs) in Jacob sheep

[Jacobflock at aol.com]

Dear Listers - The American Livestock Breeds Conservancy will be carrying  
another short article on the Tay-Sachs / Jacob sheep in their next issue of 
the  NEWS.  The article will point out that about 500 DNA tests were done, 
90%  of the flocks had at least one carrier; 11% of those tested carried the 
mutation  and, as I recall, carriers had 17 flock names.  Some Jacob 
breeders are  concerned inasmuch as the disease is in one of the four major Jacob 
lines and  demonstrates a founder effect.  Others are not  concerned.  
Members of the JSBA were counseled to be aware of the  problem but it is not 
something to be concerned about since it is not a common  problem.  Some of you 
got the molecular genetics article  about Tay-Sachs in Jacob Sheep on-line 
and a few are now also aware  that the clinical pathology paper on GM2 in 
Jacobs is on-line through Veterinary  Pathology. 
 
The free DNA testing period which ran for 2009 and 2010 is being curtailed  
since supplies sent out have not been sent back and there have been no new  
requests.  Cryo preservation sites that previously stored Jacob materials  
have been notified; mutatant Jacob semen and embryos have been cryo  
preserved.  
 
This note is just a heads-up (because some people were upset when the first 
 report of TSD in Jacobs came out and they didn't know about it  
beforehand) and probably the last that will appear for the  next few years.  Work and 
research on these neural diseases will  continue but interest and concern is 
limited.  If you wish to follow  up on this or other congenital problems in 
Jacobs, let me know.  Happy  Holidays.  Regards - Fred Horak
 
 
In a message dated 9/10/2010 8:20:32 A.M. Central Standard Time,  
Jacobflock at aol.com writes:
 
Dear listers - For those who may be interested, if you google "Tay-Sachs  + 
Jacob sheep" you will find a reference to the recent article in Molecular  
Genetics and Metabolism which describes identifying the problem, carrier  
testing, and its implications.  You can get an abstract of the article  for 
free but there is a charge if you want the complete article from the  on-line 
service.  When the published article is available I will try to  pass it on 
...  Regards, Fred  Horak

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