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Bengal DNA bundle (rdAc-PRA + b-PRA + PK-Def)
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1 ) rdAc-PRA (Progressive Retinal Atrophy )
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Breeds
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Abyssinian
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American Curl/Wirehair
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Balinese
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Bengal
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Colorpoint Shorthair
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Cornish Rex
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Javanese
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Munchkin
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Oriental Shorthair
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Ocicat
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Peterbald
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Seychellois
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Siamese
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Singapura
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Somali
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Thai
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Tonkinese
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The Disease |
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The late onset photoreceptor degeneration rdAC-PRA is affecting Abyssinian and Somali cats. This genetic disorder causes the degeneration of retinal cells in the eye: In the early stage of the disease rod cells are affected, later degeneration of the cone cells results in complete blindness of the cat.
Affected cats have normal vision at birth. The age of onset of clinical symptoms is typically at the age of 1.5-2 years. At the end stage of disease complete photoreceptor degeneration and blindness is observed, usually at the age of 3-5 years.
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Trait of Inheritance |
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The mutation in the CEP290 gene which has been suggested to cause rdAc-PRA has recently been published by the group of Kristina Narfström at the University of Missouri-Columbia, Columbia. rdAc-PRA is inherited as an autosomal recessive trait. So there are three conditions a cat can be: it can be clear (genotype N/N or homozygous normal) meaning that it does not carry the mutation and will not develop the rdAc-form of PRA. 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 CEP290 gene with the mutation and one copy without the mutation is called a carrier or heterozygous (genotype N/PRA); while it will not be affected by rdAc-PRA, it can pass the mutation onto its offspring and should therefore only be mated to clear cat.
Cats that develop this form of PRA have two CEP290 gene copies with the mutation (genotype PRA/PRA or homozygous affected); they will always pass the mutated gene onto their offspring and should also be mated only to clear cat.
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Inheritance : AUTOSOMAL
RECESSIVE
trait
Sire
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Dam
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Offspring
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clear
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clear
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100% clear
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clear
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carrier
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50% clear + 50%
carriers
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clear
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affected
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100% carriers
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carrier
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clear
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50% clear + 50%
carriers
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carrier
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carrier
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25% clear + 25% affected
+ 50% carriers
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carrier
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affected
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50% carriers + 50%
affected
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affected
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clear
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100% carriers
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affected
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carrier
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50% carriers + 50%
affected
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affected
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affected
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100% affected
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Clear
Genotype: N / N [ Homozygous normal ]
The cat is noncarrier of the mutant gene.
It is very unlikely that the cat will develop rdAc-PRA (Progressive Retinal Atrophy ). The cat will never pass the mutation to its offspring, and therefore it can be bred to any other cat.
Carrier
Genotype: N / rdAc-PRA [ 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 rdAc-PRA (Progressive Retinal Atrophy ) 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: rdAc-PRA / rdAc-PRA [ 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 rdAc-PRA (Progressive Retinal Atrophy ) and will pass the mutant gene to its entire offspring
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Description |
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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.
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Sample Requirements |
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal swabs. . |
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Turnaround |
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1 - 2 weeks
We will run this test 2 independant times on your sample to ensure that the result is 100% accurate
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2 ) Progressive Retinal Atrophy in Bengal (PRA-b / b-PRA)
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The Disease |
Bengal Progressive Retinal Atrophy (PRA-b) is an inherited eye disease affecting the Bengal cat. The disease is characterised by progressive blindness that starts around the age of 7 weeks and slowly progresses until the cat has very compromised vision around the age of two years. The disease develps at different rates in the different cats. The pupil in affected cats is more dilated compared to cats with normal vision. Affected cats tend to carry their whiskers forward. Blind cats tend to have more difficulty at night, sometimes becoming more vocal and more attached to their owners.
The trait of inheritance is autosomal recessive which means that the disease can affect both male and female cats and that a cat can only develop the disease if it inherits two copies of the mutation one from the mother and one from the father. Carries do not develp the disease but they can pass the mutation to offspring and therefore they should only be bred to clear cats. DNA testing enables breeders to breed healthy kittens.
The test is offered in cooperation with the Veterinary Genetic Laboratory at the University of California. |
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Trait of Inheritance |
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Autosomal Recessive
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Inheritance : AUTOSOMAL
RECESSIVE
trait
Sire
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Dam
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Offspring
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clear
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clear
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100% clear
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clear
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carrier
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50% clear + 50%
carriers
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clear
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affected
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100% carriers
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carrier
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clear
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50% clear + 50%
carriers
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carrier
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carrier
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25% clear + 25% affected
+ 50% carriers
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carrier
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affected
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50% carriers + 50%
affected
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affected
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clear
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100% carriers
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affected
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carrier
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50% carriers + 50%
affected
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affected
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affected
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100% affected
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Clear
Genotype: N / N [ Homozygous normal ]
The cat is noncarrier of the mutant gene.
It is very unlikely that the cat will develop Progressive Retinal Atrophy in Bengal (PRA-b / b-PRA). The cat will never pass the mutation to its offspring, and therefore it can be bred to any other cat.
Carrier
Genotype: N / PRA-b [ 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 Progressive Retinal Atrophy in Bengal (PRA-b / b-PRA) 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: PRA-b / PRA-b [ 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 Progressive Retinal Atrophy in Bengal (PRA-b / b-PRA) and will pass the mutant gene to its entire offspring
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Sample Requirements |
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal swabs. . |
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3 ) PK Deficiency (Pyruvate Kinase Deficiency)
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Breeds
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Abyssinian
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Bengal
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Domestic Longhair
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Domestic Shorthair
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Egyptian Mau
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La Perm
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Maine Coon
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Norwegian Forest Cat
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Ocicat
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Savannah
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Siberian
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Singapura
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Somali
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The Disease |
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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.
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Trait of Inheritance |
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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.
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Inheritance : AUTOSOMAL
RECESSIVE
trait
Sire
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Dam
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Offspring
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clear
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clear
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100% clear
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clear
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carrier
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50% clear + 50%
carriers
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clear
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affected
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100% carriers
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carrier
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clear
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50% clear + 50%
carriers
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carrier
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carrier
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25% clear + 25% affected
+ 50% carriers
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carrier
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affected
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50% carriers + 50%
affected
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affected
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clear
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100% carriers
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affected
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carrier
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50% carriers + 50%
affected
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affected
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affected
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100% affected
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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
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Description |
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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.
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Sample Requirements |
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal swabs. . |
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Price
for the above 3 tests
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£ 60.00 (including VAT)
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| To order:
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Download
Order Form from this link 
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Complete the order form and send it together
with your samples to the following address:
Laboklin (UK), 125 Northenden Road, Manchester, M33 3HF
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