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Progressive Retinal Atrophy (cord1- PRA)not recommended for diagnosis
Update: 14/03/2013

Cord1 PRA test is not recommended for the diagnostic of cord1 PRA becaue a recent study found that the mutation is not solely responsible for early-onset cone-rod dystrophy, and that there is another unidentified mutation involved in the development of cord1 PRA

we continue to offer the test to breeders who are interested in controlling this mutation within the breed but only on the understanding that this mutation is not the primary cause of Cord1 PRA. The test is also available for research purpose.

Breeds
English Springer Spaniel , Miniature Long Haired Dachshund , Miniature Smooth Haired Dachshund .
The Disease
The cord1-PRA (Cone-rod dystrophy 1) is an inherited disease of the eye that occurs in English Springer Spaniel, Miniature Long-Haired Dachshunds and Smooth-Haired Dachshunds.

The retina is a thin layer of neural cells that lines the back of the eyeball. The vertebrate retina contains photoreceptor cells (rods and cones) that respond to light. The cones mediate high-resolution vision and colour vision. The rods mediate lower-resolution, black-and-white, night vision.

The degeneration of the retina results in loss of vision, often leading to blindness. There is currently no treatment for the disease. In contrast to rod-cone dystrophies, where firstly, rod cells are affected and secondly, degeneration of the cone cells results in complete blindness of the dog, cone-rod dystrophies are characterised by the relatively early loss of cone photoreceptors.

The earliest ophtalmoscopic signs could appear about six month of age but some dogs with the mutation are not diagnosed until much later in life, so owner may never see behavioural changes and never recognise that the dog can pass the mutation onto its offspring.

Since diagnosis of retinal diseases in dogs may prove difficult, the genetic test on cord1-PRA helps to diagnose a specific form of a disease and is also a useful tool for breeders to eliminate the mutated gene from the dog population.

Trait of Inheritance
Cord1-PRA is inherited as an autosomal recessive trait. So there are three conditions a dog 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 cord1-form of PRA. Since it also cannot pass the mutation onto its offspring, it can be mated to any other dog.

A dog which has one copy of the 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 cord1-PRA, it can pass the mutation onto its offspring and should therefore only be mated to clear dogs.

Dogs that develop this form of PRA have two 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 dogs.


Inheritance : AUTOSOMAL RECESSIVE trait


 

Sire

  Dam   Offspring
         
Clear
x
Clear
>
100% Clear
         
clear
x
carrier
>
50%  Clear + 50% carriers
         
clear
x
affected
>
100% carriers
         
carrier
x
Clear
>
50%  Clear + 50% carriers
         
carrier
x
carrier
>
25% clear + 25% affected + 50% carriers
         
carrier
x
affected
>
50% carriers + 50% affected
         
affected
x
Clear
>
100%  carriers
         
affected
x
carrier
>
50% carriers + 50% affected
         
affected
x
affected
>
100% affected

 


Clear

Genotype: N / N [ Homozygous normal ]

The dog is noncarrier of the mutant gene.

The dog will never develop Progressive Retinal Atrophy (cord1- PRA)not recommended for diagnosis and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / PRA [ Heterozygous ]

The dog carries one copy of the mutant gene and one copy of the normal gene.

The dog will never develop Progressive Retinal Atrophy (cord1- PRA)not recommended for diagnosis 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: PRA / PRA [ 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 will develop Progressive Retinal Atrophy (cord1- PRA)not recommended for diagnosis 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 test with a very high accuracy 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.

Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
withing 7 working days
Price
£ 55.00 (including VAT)

To order:

  • Download Order Form from this link pdf

  • Complete the order form and send it together with your samples to the following address:

    Laboklin (UK),   125 Northenden Road, Manchester, M33 3HF

See Also:
Copper Toxicosis  
Progressive Retinal Atrophy (Dominant PRA)  
Globoid Cell Leukodystrophy (Krabbe Disease)  
CSNB (Congenital Stationary Night Blindness)  
CLAD (Canine Leukocyte Adhesion Deficiency)  
Cystinuria  
von Willebrand disease Type II (vWD II)  
PK Deficiency (Pyruvate Kinase Deficiency)  
Fucosidosis  
PFK Deficiency (Phosphofructokinase deficiency)  
Myotonia Congenita  
MH (Malignant Hyperthermia)  
X-Linked Severe Combined Immunodeficiency (X-SCID)  
GM1-Gangliosidosis  
Narcolepsy  
Muscular Dystrophy (MD)  
MPS ( Mucopolysaccharidosis type VII)  
Hereditary Myopathy / Centronuclear Myopathy (HMLR, CNM)  
Canine Cyclic Neutropenia (Gray Collie Syndrome)  
Progressive Retinal Atrophy (prcd - PRA)  
L-2-HGA ( L- 2 - hydroxyglutaric aciduria )  
von Willebrand disease Type I (vWD I)  
von Willebrand disease Type III (vWD III)  
Neuronal Ceroid Lipofuscinosis ( NCL )  
Trapped Neutrophil Syndrome ( TNS )  
Progressive Retinal Atrophy (crd PRA)  
PDP 1 Deficiency (Pyruvate Dehydrogenase Phosphatase 1 Deficiency)  
Factor VII Deficiency  
Progressive Retinal Atrophy (rcd1 PRA)  
Progressive Retinal Atrophy (rcd3 PRA)  
Progressive Retinal Atrophy (rcd1a PRA)  
MDR1 Gene Defect / Ivermectin Sensitivity  
Exercise Induced Collapse ( EIC )  
Dwarfism (Pituitary Dwarfism / Hypopituitarism)  
Degenerative Myelopathy / degenerative radiculomyelopathy)  
Greyhound Neuropathy (Hereditary Neuropathy)  
Brittle Bone Disease (Osteogenesis Imperfecta)  
Glycogen Storage Disease (GSDllla)  
Hereditary Cataract  
Hyperuricosuria (HUU, SLC)  
Neonatal encephalopathy (NE)  
Haemophilia B (factor IX deficiency)  
JEB (Junctional Epidermolysis bullosa)  
Primary Lens Luxation (PLL)  
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) *  
Brachyury (Bobtail Gene / Short Tail)  
Dilated Cardiomyopathy (DCM) *  
Familial Nephropathy (FN) / Hereditary Nephropathy *  
Startle Disease (SD) / Hyperekplexia  
Familial Nephropathy (FN) / Hereditary Nephropathy  
Myostatin Mutation ("Bully" Whippet)/ Double Muscling  
Hereditary Nephritis / Samoyed Hereditary Glomerulopathy  
Episodic Falling in Cavalier King Charles Spaniel (EF)  
Dry Eye and Curly Coat syndrome (CCS)  
Episodic Falling + Dry Eye Curly Coat syndrome

LIMITED PERIOD OFFER ONLY £55
FOR BOTH TESTS

 
Haemophilia A (factor VIII deficiency)  
Congenital Hypothyreosis / hypothyroidism (CHG)  
Hereditary Nasal Parakeratosis (HNPK)  
Hereditary Necrotizing Myelopathy (ENM)*  
Juvenile dilated cardiomyopathy (JDCM)*  
Juvenile epilepsy*  
Musladin-Lueke syndrome (MLS)  
Ichthyosis  
Neonatal Cortical Cerebellar Abiotrophy (NCCD)  
Dwarfism (Skeletal Dysplasia 2)  
Primary Open Angle Glaucoma (POAG)  
Progressive Retinal Atrophy (generalized PRA)  
Progressive Retinal Atrophy (GR-PRA1)  
Progressive retinal atrophy ( rcd4-PRA) / LOPRA  
Alaskan Malamute Polyneuropathy (AMPN)  
Pug Dog Encephalitis (PDE) / Necrotizing Meningoencephalitis (NME)  

 
 
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