|
|
|
new tests:
new
Kennel Club
DNA testing schemes with LABOKLIN:
|
|
Progressive Retinal Atrophy ( BBS2 type )
Test number: 8773
Gene Name: BBS2
Short Name: BBS2
Price: £ 48.00 (including VAT)
|
|
|
|
|
|
Breed
|
|
Shetland Sheepdog (Sheltie)
.
|
|
|
|
Kennel Club
|
|
This test is part of the Official UK Kennel Club DNA Testing Scheme in Shetland Sheepdog (Sheltie).
for UK registered dogs, Laboklin can send results of the tests which are part of the Official UK Kennel Club DNA testing scheme to the Kennel Club (KC) to be recorded and published
as part of the Kennel Club scheme. Results will only be recorded and published by the KC if the result report includes the dog’s
microchip or tattoo number along with either the dog’s registered name or registered number. Any test results that do not carry these identifying
features will not be recorded by the Kennel Club.
In order to ensure that test results are sent to the Kennel Club, customers must also sign the declaration section on the order form to give Laboklin permission to do so.
important:
When you sign the declaration, Laboklin will send the results to the KC on your behalf, and you do not need to send them to the KC yourself again to avoid unnecessary duplications.
|
|
|
|
The Disease |
 |
Progressive Retinal Atrophy (BBS2 type)
Another form of PRA affecting Shetland Sheepdogs
This is another form of PRA affecting Shetland Sheepdogs, the disease is caused by a mutation in the BBS2 gene. This novel form of PRA, is unusual because it is expressed together with other characteristics including a wavy, atypical textured coat, upturned nose and dental defects. Scientist also believe that the disease may also cause kidney abnormalities and obesity due to an enhanced motivation for food, but further studies are required to confirm this.
The age of onset of this form of PRA is variable. Dogs which are homozygous for the BBS2 mutation will almost certainly develop PRA during their lifetime and may also display some or all of the other characteristics associated with the syndrome.
Please note that in Shetland Sheepdog there is another PRA variant which can also cause Progressive Retinal Atrophy, it is called Progressive Retinal Atrophy (CNGA1 PRA) , and both tests are recommended for genetic PRA analysis in this breed.
Autosomal recessive |
|
|
|
|
Trait of Inheritance |
|
Autosomal recessive
|
Inheritance : AUTOSOMAL
RECESSIVE
trait
Sire
|
|
Dam
|
|
Offspring
|
| |
|
|
|
|
|
clear
|
 |
clear
|
 |
100% clear
|
| |
|
|
|
|
|
clear
|
|
carrier
|
|
50% clear + 50%
carriers
|
| |
|
|
|
|
|
clear
|
|
affected
|
|
100% carriers
|
| |
|
|
|
|
|
carrier
|
|
clear
|
|
50% clear + 50%
carriers
|
| |
|
|
|
|
|
carrier
|
|
carrier
|
|
25% clear + 25% affected
+ 50% carriers
|
| |
|
|
|
|
|
carrier
|
|
affected
|
|
50% carriers + 50%
affected
|
| |
|
|
|
|
|
affected
|
|
clear
|
|
100% carriers
|
| |
|
|
|
|
|
affected
|
|
carrier
|
|
50% carriers + 50%
affected
|
| |
|
|
|
|
|
affected
|
|
affected
|
|
100% affected
|
Clear
Genotype: N / N [ Homozygous normal ]
The dog is noncarrier of the mutant gene.
It is very unlikely that the dog will develop Progressive Retinal Atrophy ( BBS2 type ). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.
Carrier
Genotype: N / BBS2 [ Heterozygous ]
The dog carries one copy of the mutant gene and one
copy of the normal gene.
It is very unlikely that the dog will develop Progressive Retinal Atrophy ( BBS2 type ) but since it carries the mutant gene, it can pass it on to its offspring with the probability of 50%. Carriers should only be bred to clear dogs. Avoid breeding carrier to carrier because 25% of their offspring is expected to be affected (see table above)
Affected
Genotype: BBS2 / BBS2 [ Homozygous mutant ]
The dog carries two copies of the mutant gene and
therefore it will pass the mutant gene to its entire offspring.
The dog is likely to develop Progressive Retinal Atrophy ( BBS2 type ) and will pass the mutant gene to its entire offspring
|
|
|
| |
| |
|
Price
|
|
£ 48.00 (including VAT)
|
|
|
 |
|
|
|
|
| See also: |
|
|
|
