|
|
|
|
|
1 ) PK Deficiency (Pyruvate Kinase Deficiency)
|
|
Breeds
|
|
Abyssinian
,
Bengal (Leopard cat)
,
Domestic Longhair
,
Domestic Shorthair
,
Egyptian Mau
,
La Perm
,
Maine Coon
,
Norwegian Forest Cat
,
Ocicat
,
Savannah
,
Siberian
,
Singapura
,
Somali
.
|
|
|
|
The Disease |
|
Pyruvate kinase (PK) is an enzyme critical to the anaerobic glycolytic pathway of energy production in the erythrocyte. If erythrocytes are deficient in PK they are unable to sustain normal cell metabolism and hence are destroyed prematurely. This deficiency manifests as an hemolytic anemia of variable severity with a strong regenerative response.
In cats, PK deficiency has been described in Abyssinian and Somali cats. The feline disease differs from the canine disease in that affected cats can have a normal life span, only intermittently have anemia, and do not seem to develop either osteosclerosis or liver failure.
The clinical signs of disease reflect the anemic status of the animal and include exercise intolerance, weakness, heart murmur and splenomegaly.
|
|
|
|
|
Trait of Inheritance |
|
PK is inherited as an autosomal recessive condition. Heterozygotes (carriers) do not have any clinical signs of disease and live normal lives. They are able to propagate mutations throughout the population however and it is therefore important that carrier animals are detected prior to breeding.
PK deficiency can be detected, using molecular genetic testing techniques. These tests identify both affected and carrier animals. It is also possible to identify animals deficient in PK activity through enzyme analysis in those breeds where a molecular genetic test is not available.
|
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 cat is noncarrier of the mutant gene.
It is very unlikely that the cat will develop PK Deficiency (Pyruvate Kinase Deficiency). The cat will never pass the mutation to its offspring, and therefore it can be bred to any other cat.
Carrier
Genotype: N / PK [ Heterozygous ]
The cat carries one copy of the mutant gene and one
copy of the normal gene.
It is very unlikely that the cat will develop PK Deficiency (Pyruvate Kinase Deficiency) 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 cats. Avoid breeding carrier to carrier because 25% of their offspring is expected to be affected (see table above)
Affected
Genotype: PK / PK [ Homozygous mutant ]
The cat carries two copies of the mutant gene and
therefore it will pass the mutant gene to its entire offspring.
The cat is likely to develop PK Deficiency (Pyruvate Kinase Deficiency) and will pass the mutant gene to its entire offspring
|
|
|
|
Description |
|
PK - The Mutation-based Test and its Advantages
The genetic defect leading to the disease has been identified. By DNA testing the responsible mutation can be shown directly. This method provides a very high accuracy test and can be done at any age. It offers the possibility to distinguish not only between affected and clear dogs, but also to identify clinically healthy carriers. This is an essential information for controlling the disease in the breed as carriers are able to spread the disease in the population, but can not be identified by means of common laboratory diagnostic.
If a particularly valuable animal turns out to be a carrier, it can be bred to a non-affected animal, and non-carrier puppies can be saved for the next round of breeding.
|
|
|
|
|
Sample Requirements |
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal swabs. . |
|
|
| |
|
2 ) Glycogen Storage Disease ( GSD ) Type IV
|
|
|
|
Update 25/11/2011 price of Glycogen Storage Disease ( GSD ) Type IV in Norwegian Forest Cats has been reduced to £49.95 (VAT included)
|
|
|
|
|
Breed
|
|
Norwegian Forest Cat
.
|
|
|
|
The Disease |
|
Glycogen storage disease type IV (GSD IV) of the Norwegian forest cat is an
inherited abnormality of glucose metabolism. Normally, excess glucose is stored in
many tissues as glycogen. If energy is needed, glucose molecules are removed from
glycogen. The ability to add and remove glucose molecules from glycogen efficiently
is dependent on its highly branched structure. The glycogen branching enzyme
(GBE) is an enzyme of glycogen synthesis necessary to produce the branching
structure.
Deficiency of GBE activity leads to abnormal glycogen accumulation in myocytes,
hepatocytes, and neurones, causing variably progressive, benign to lethal organ
dysfunctions.
Most affected kittens die at or soon after bird, presumably due to hypoglycemia.
Survivors of the perinatal period appear clinically normal until onset of progressive
neuromuscular degeneration at 5 month of age.
|
|
|
|
|
Trait of Inheritance |
|
The mutation and inheritance
The mutation in the GBE1 gene which has been suggested to cause GSD-IV has
recently been published by the group of John C. Fyfe at the University of Michigan,
USA.
GSD IV is inherited as an autosomal recessive trait. So there are three conditions a
cat can be: it can be clear or homozygous normal (genotype N/N) meaning that it
does not carry the mutation and will not develop GSD IV. Since it also cannot pass
the mutation onto its offspring, it can be mated to any other cat.
A cat which has one copy of the GBE1 gene with the mutation and one copy without
the mutation is called a carrier or heterozygous (genotype N/GSD-IV); while it will not
be affected by GSD IV, it can pass the mutation onto its offspring and should
therefore only be mated to clear cats.
Affected kitten have two GBE1 gene copies with the mutation (genotype GSDIV/
GSD-IV or homozygous affected); they will always pass the mutated gene onto
their offspring.
|
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 cat is noncarrier of the mutant gene.
It is very unlikely that the cat will develop Glycogen Storage Disease ( GSD ) Type IV. The cat will never pass the mutation to its offspring, and therefore it can be bred to any other cat.
Carrier
Genotype: N / GSDIV [ Heterozygous ]
The cat carries one copy of the mutant gene and one
copy of the normal gene.
It is very unlikely that the cat will develop Glycogen Storage Disease ( GSD ) Type IV 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 cats. Avoid breeding carrier to carrier because 25% of their offspring is expected to be affected (see table above)
Affected
Genotype: GSDIV / GSDIV [ Homozygous mutant ]
The cat carries two copies of the mutant gene and
therefore it will pass the mutant gene to its entire offspring.
The cat is likely to develop Glycogen Storage Disease ( GSD ) Type IV and will pass the mutant gene to its entire offspring
|
|
|
|
Description |
|
By DNA testing, the responsible mutation can be shown directly. This method
provides a very high accuracy test and can be done at any age. It offers the
possibility to distinguish not only between affected and clear cats, but also to identify
clinically healthy carriers. This is an essential information for controlling the disease
in the breed, as carriers are able to spread the disease in the population, but can not
be identified by means of common laboratory diagnostic.
To ensure maximum test reliability, the test is always performed in two independent
test runs per sample.
|
|
|
|
|
Sample Requirements |
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal swabs. . |
|
|
|
Turnaround |
|
2 - 3 weeks
We will run this test 2 independant times on your sample to ensure that the result is 100% accurate
|
|
|
|
3 ) Coat colour amber
|
|
Breed
|
|
Norwegian Forest Cat
.
|
|
|
|
Description |
|
In Norwegian Forest Cats, the Amber gene lightens the black colour. Cat which are black at birth, becomes brighter until they finally appear almost amber or cinnamon during the first year of life. The black colour is retained only at the tips of the tail.
The mutation responsible for the Amber phenotype (e) is located at the extension-locus (E) which controls the generation of pheomelanin also in other species.
Display of the Amber coloration depends on the presence/absence of dominant Orange. In the absence of Orange, males and females with genotype e/e will have the Amber coloration. Amber males that have the Orange gene will be red. Amber females that have one copy of the Orange gene will be amber/red tortoiseshell. Amber females with two copies of the Orange gene will be red.
|
|
|
|
|
Sample Requirements |
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal swabs. . |
|
|
| |
|
Price
for the above 3 tests
|
|
£ 60.00 (including VAT)
|
|
|
 |
| To order:
-
Download
Order Form from this link 
-
Complete the order form and send it together
with your samples to the following address:
Laboklin (UK), 125 Northenden Road, Manchester, M33 3HF
|
|
|
|
