LABOKLIN (UK)| Genetic Diseases | Cats| rdAc-PRA (Progressive Retinal Atrophy )

rdAc-PRA (Progressive Retinal Atrophy )

Test number: 8117 (this test number replaces the old 8117CGD)
Gene: rdAc-PRA
Price: £ 48.00 (including VAT)

Breeds

Abyssinian , American Curl Longhair , American Curl Shorthair , American Wirehair , Balinese , Bengal (Leopard cat) , Colorpoint Shorthair , Cornish Rex , Javanese , Munchkin , Ocicat , Oriental Shorthair (OSH) , Peterbald , Seychellois , Siamese , Singapura , Somali , Thai , Tonkinese .

The Disease

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.

Trait of Inheritance

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.

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 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

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

1 - 2 weeks

We will run this test 2 independant times on your sample to ensure that the result is 100% accurate

Price

£ 48.00 (including VAT)