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Genotype Considerations for Scrapie
Susceptibility
DNA mutation testing for scrapie resistance has
finally received acceptance by the Department of
Agriculture’s Animal Plant Health Inspection
Service (APHIS) as an acceptable means for flock
control of this fatal nuerodegenerative disease in
sheep and goats. That is good news for breeders
because now an easy method for control of the
genetic inheritance for susceptibility is easily
obtained from a small sample of blood taken from
an animal.
However, susceptiblity testing at codon 171 may
not be enough. In 2002 scrapie positive animals
(sheep) were discovered that DNA tested QR at
codon 171. What does that mean for breeders? It
means that if you are testing replacement and/or
sale animals for resistance inheritance additional
testing of QR diagnosed sheep is needed to insure
scrapie resistance. Thus far it has been
determined that sheep testing positive for scrapie
and possessing a codon 171 genotype of QR have
also been shown to be AV at codon 136. Sheep that
had been diagnosed with scrapie and found to be QQ
at codon 171 always have an AV at codon 136. To
date, no animals with a codon 171 test of RR has
ever been diagnosed with scrapie. Given this
latest development all animals that test QR at
codon 171 should be re-tested to determine their
genotype at codon 136. The preferred genotypes
that seem to yield scrapie resistance are AA/RR,
AA/QR (codon pairs are generally listed in
numerical order).
Why is the codon 136 mutation, V, important to
susceptibility of scrapie if codon 171 is QR?
Codon 136 mutations conferring susceptibility to
scrapie appear to be linked to mutations at codon
171 (QR) and dominate over that genotype. No
animals have ever been found with a genotype of
AV/RR suggesting that the inheritance of the V
mutation at codon 136 is linked to inheritance of
the Q allele at codon 171. To date, there is still
no need to test US sheep for their genotype at
codon 154. We will continue to update our
customers on new developments with the correlation
of genotypes and their affect on scrapie
susceptibility, as they become available.
Bottom line: If your breeding objective is to
raise sheep that are genetically resistant to
scrapie and you have replacement breeding animals
with a genotype at codon 171 of QR then have the
sheep’s DNA tested (their DNA should still be
available at your commercial provider) for the
genotype at codon 136. If the codon 171 animals
are QR and the codon 136 has a genotype of AV then
you have a serious decision to make regarding your
commitment to cull potentially susceptible animals
from your breeding program. If animals test AA/QR
then they may not be susceptible to scrapie and
can be kept for breeding purposes in your flock or
herd. New testing methodologies are coming soon
that will allow genotype determination at codons
136 and 171 to be done simultaneously. Contact
your favorite service provider and they will be
happy to assist you with your testing needs.
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