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Persian DNA bundle (PKD + pd-PRA + AMD)
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1 ) PKD (Feline Polycystic Kidney Disease)
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Breeds
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Angora
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British Shorthair
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Birman (Sacred cat of Burma)
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British Longhair
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Chartreux
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Colourpoint
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Exotic Shorthair
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Persian
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Persian Ragdoll
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Persian Related
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Ragdoll
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Ragdoll Related
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Russian Blue
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Scottish Fold
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Selkirk Rex
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The Disease |
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Feline polycystic kidney disease is an inherited disease in Persian and Persian related cats. Approximately 38 % of Persian cats world-wide are positive for PKD, which is 6% of cats in total, making it the most prominent inherited feline disease. PKD causes the formation of hepatic and renal cysts as well as of fluid-filled renal cysts, often leading to renal failure.
Cystic kidneys can sporadically occur in any population of cats, but early onset and bilateral presentation is a hallmark to the hereditary form. The kidney cysts for PKD are present early, generally before 12 months, but renal failure generally occurs at a later time, thus it is considered a late onset renal disease. The presence of cystic kidneys can be determined by 6 to 8 months of age by ultrasonic techniques and affection diagnosis is generally certain by one to two years. Average age for renal dysfunction, not failure, is 7 years for cats with PKD. Thus, with out imaging techniques, cats would go undiagnosed for PKD for many years. Clinical signs are non specific but common to cats experiencing renal dysfunction, including depression, anorexia, reduced appetite, polyuria, polydypsia, and weight loss.
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Trait of Inheritance |
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PKD is inherited as a single autosomal dominant condition. Heterozygous animals show all clinical signs of disease and can not live normal lives. They are able to propagate mutations throughout the population. Generally, 50% of a PKD positive cats' offspring will inherit PKD.
Homozygous affected animals for PKD have not been found suggesting that the mutation in its homozygous form is embryonically lethal.
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Inheritance : AUTOSOMAL
DOMINANT
trait
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Description |
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PKD - the mutation
Recently, the mutation which is suggested to cause PKD in cats was found by Dr. Leslie Lyons (University of Davis, USA). This mutation was found in all PKD affected cats but not in cats which were tested free by means of ultrasonic techniques.
PKD - the DNA test
By DNA testing the mutation can be shown directly. The testing is carried out by state of the art laboratory methods and therefore provides a very high accuracy. In general DNA tests can be done at any age.
The test can be applied to Persian and Persian related cats, which were cross bred to Persians. With this test we can diagnose the reported mutation, but by no means we can report on the presence/absence of the disease (especially in breeds where the correlation of PKD disease and the cited mutation is not proven). The results that are transmitted contain the information on presence/absence of the C to A mutation in the PKD 1 gene exon 29 in the sample of the cat examined. We want to point out that there is still a small possibility of other mutations causing PKD which are not identified so far.
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Sample Requirements |
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal swabs. . |
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2 ) pd - Progressive Retinal Atrophy (pd-PRA)
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Breeds
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Angora
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British Shorthair
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Birman (Sacred cat of Burma)
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British Longhair
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Chartreux
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Colourpoint
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Exotic Shorthair
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Persian
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Ragdoll
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Russian Blue
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Scottish Fold
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Selkirk Rex
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The Disease |
The pd- PRA-form of Progressive Retinal Atrophy is an autosomal recessive genetic disorder.
The onset of photoreceptor loss is around 5 weeks of age progressing to severe loss by the age of 16 weeks. Clinical symptoms include uncoordinated eye movement, increased eye-shine was reported as thinning of the retina progresses. Corneal thinning is not observed. Cats with one normal and one mutated gene (carriers) have normal vision although photoreceptor loss has been noted. |
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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 pd - Progressive Retinal Atrophy (pd-PRA). The cat will never pass the mutation to its offspring, and therefore it can be bred to any other cat.
Carrier
Genotype: N / pd-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 pd - Progressive Retinal Atrophy (pd-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: pd-PRA / pd-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 pd - Progressive Retinal Atrophy (pd-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 ) Alpha-Mannosidosis (AMD)
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The Disease |
Alpha-mannosidosis is a rare inherited disease of cats caused by an abnormal lysosomal storage within cells.
The Alpha-mannosidosis (AMD) is a lysosomal storage disorder caused by a deficiency of the enzyme Alpha-D-mannosidase. The causative mutation prevents formation of the enzyme, resulting in an intracellular accumulation of mannose-rich oligosaccharides |
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Clinical Signs |
Clinical symptoms include skeletal abnormalities, neurological signs such as ataxia and tremors, and corneal and lenticular opacities.
Stillbirths and neonatal deaths may occur in Persian litters and many affected animals may not survive the first 6 months of life. |
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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 Alpha-Mannosidosis (AMD). The cat will never pass the mutation to its offspring, and therefore it can be bred to any other cat.
Carrier
Genotype: N / AMD [ 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 Alpha-Mannosidosis (AMD) 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: AMD / AMD [ 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 Alpha-Mannosidosis (AMD) 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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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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