Due to this relationship, they are at risk for inheriting
the prcd gene.
Each pup that is born to this pairing has a 25 % chance of inheriting the disease and a 50 % chance of being a carrier of
the PRCD gene mutation.
Genetic testing of
the PRCD gene will reliably determine whether a dog is a genetic Carrier of PRA - prcd.
For example, the prcd - PRA DNA test detects one specific mutation in
the prcd gene and the XL - PRA test detects a specific mutation in a different gene.
The OptiGen test for PRA in the Spanish Water Dog and Australian Shepherds identifies a mutation in
the prcd gene that was discovered through extensive research in the laboratories of Dr. Gustavo Aguirre and Dr. Gregory Acland at Cornell University (Zangerl et al., Genomics 88, 551 - 563, 2006).
Results will indicate whether your dog has one, two, or no copies of the mutated version of
the PRCD gene.
Not exact matches
Because there is more than one form of PRA, if there should happen to be a second form in the breed and your dog had the
genes for that type it would be possible to test your dog «for PRA» using the
PRCD test with clear results when the dog is actually affected — but with a different form of PRA.
Italian Greyhounds definitely have PRA in their
gene pool, and
prcd is believed to be the form of PRA affecting Italian Greyhounds.
June 1, 2005 New Mutation Test for
prcd PRA Is Now Available OptiGen, LLC, proudly announces identification of the
gene causing canine
prcd - PRA (progressive rod - cone degeneration form of Progressive Retinal Atrophy).
OptiGen now offers a direct
gene mutation test (mutation test) to detect the
prcd - PRA status of any dog among affected breeds.
It's been proven that all breeds being tested for
prcd - PRA have the same disease caused by the same mutated
gene.
Blood samples from a representative family in this pedigree will be evaluated by DNA markers / designate
genes to determine if the disorder present is
prcd or a variant of this
gene.
Intriguingly, an identical homozygous mutation was identified in a human patient with recessive retinitis pigmentosa, the human equivalent of PRA, and established the novel retinal
gene,
PRCD, as an important
gene for the maintenance of rod photoreceptor structure and function across species.
The same ancestral autosomal recessive mutation for the progressive rod cone degeneration (
prcd) form of progressive retinal atrophy (PRA) is found in the American Cocker Spaniel, American Eskimo Dog, Australian Cattle Dog, Australian Shepherd, Chesapeake Bay Retriever, Chinese Crested Dog, English Cocker Spaniel, Entelbucher Mountain Dog, Finnish Lapphund, Golden Retriever, Kuvasz, Labrador Retriever, Lapponian Herder, Norwegian Elkhound, Nova Scotia Duck Trolling Retriever, Poodle, Portuguese Water Dog, Silky Terrier, Spanish Water Dog, Stumpy Tail Cattle Dog Swedish Lapphund, and Yorkshire Terrier.3 This list continues to grow as more breeds are discovered with the same defective
gene.
It is also not surprising that
prcd - PRA affected dogs (who must receive the defective
gene from both parents) have been identified in Labradoodles (Labrador Retriever x Poodle crosses), Goldendoodles (Golden Retriever x Poodle crosses) and Cockapoos (Cocker Spaniel x Poodle crosses).
This led to the eventual identification of a single nucleotide substitution in the second codon of a previously unknown
gene that is now known to be the cause of
PRCD in at least 18 different breeds [23].
Called «genetically clear», «noncarriers» or, more formally, «homozygous normals,» such dogs pass the normal
gene on to all their pups with a very high probability - which means that their pups have a very low risk of being affected with
prcd.
Homozygous means both copies of the
gene in your dog are the SAME - both normal or both
prcd.
However, because there are multiple types of PRA caused by mutations in other
genes, a normal result in
PRCD does not exclude PRA in a pedigree.
PRA -
prcd is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated
gene (one from each parent) to develop the disease.
Fortunately, Drs. Gustavo Aguirre and Gregory Acland at the James A. Baker Institute at Cornell University have localized the
gene for
prcd in some breeds of dogs to chromosome 9.
The
gene mutation causing the
prcd form of PRA is present in the Chinese Crested breed.
As both
PRCD markers were monomorphic and uninformative, no conclusions could be drawn about a possible involvement of this
gene in the disease process.
Seven known canine PRA
genes were tested for possible association: BEST1 [8], [9], PDE6B and PDE6A [23]--[26],
PRCD [27], RPE65 [6], [7], NPHP4 [28], and CNGB3 [29], [30].
Indeed, the best thing about the test for
prcd - PRA is that it helps keep the
gene pool from shrinking.
In order to develop PRA, a dog must inherit two copies of the defective
prcd - PRA
gene: one from its dam, one from its sire.
Progressive Retinal Atrophy (PRA — and specifically, the
prcd form of PRA) is an inherited eye disease rooted deep in the
gene pool of at least a couple dozen breeds.
Genes associated with the following forms of inherited canine retinal diseases were tested for association using fragment analysis in 11 PRA - affected and 11 unaffected Swedish vallhund dogs: canine multifocal retinopathy (cmr;
gene: BEST1)[8], [9], rod - cone dysplasia type 1 (rcd1; PDE6B) and type 3 (rcd3; PDE6A)[23]--[26], progressive rod - cone degeneration (
prcd; PRCD)[27], canine Leber congenital amaurosis (LCA; RPE65)[6], [7], cone - rod dystrophy (crdSWHD, NPHP4)[28], and achromatopsia / cone degeneration (ACHM / cd; CNGB3)[29], [
prcd;
PRCD)[27], canine Leber congenital amaurosis (LCA; RPE65)[6], [7], cone - rod dystrophy (crdSWHD, NPHP4)[28], and achromatopsia / cone degeneration (ACHM / cd; CNGB3)[29], [
PRCD)[27], canine Leber congenital amaurosis (LCA; RPE65)[6], [7], cone - rod dystrophy (crdSWHD, NPHP4)[28], and achromatopsia / cone degeneration (ACHM / cd; CNGB3)[29], [30].