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Birma DNA bundle (PKD + pd-PRA + Hypotrichiose + MPS6)
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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 ) Hypotrichosis and Short Life Expectancy
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Breed
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Birman (Sacred cat of Burma)
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The Disease |
Hypotrichosis is a genetic disorder affecting the Birman cat breed. Affected kittens are either born bald or have a thin downy coat that falls out within a week of birth. Some kittens are dead at birth. Affected kittens may grow a thin coat within the first two months while others remain bald. The immune system does not function properly. Most kittens succumb to infections and usually die within 13 weeks of birth.
Other clinical signs include greasy skin and crusting of the skin around the face from where the mother has tried to groom them. Often more than one animal is affected per litter. Other abnormalities described in affected Birman cats include absence of whiskers and claws and abnormalities on the surface of the tongue. |
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Sample Requirements |
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal swabs. . |
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4 ) Mucopolysaccharidosis Type VI (MPS VI MPS6)
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Breeds
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Balinese
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Birman (Sacred cat of Burma)
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Domestic Shorthair
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Javanese
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Oriental Shorthair
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Peterbald
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Seychellois
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Siamese
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Thai
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Tonkinese
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The Disease |
Mucopolysaccharidosis type VI (MPS VI) is a lysosomal storage disease that is triggered by two independent mutations in the gene for enzyme N-acetylgalactosamine 4-sulfatase (4S). Both mutations are autosomal and recessive. The two mutations occur separately leading to the presence of six possible genotypes. The two mutations have different effects on the severity of the disease. A mild form (m) and a severe form (s), the mild form may only be detected by certain laboratory tests. With the severe form symptoms starts at 6-8 weeks of age and includes wide face, shortened nose, small ears, reduced flexibility and retarded growth compared to unaffected littermates. By 8 months of age, affected cats suffer of severe hind-limb mobility problems or paralysis, neurological symptoms and dwarfism. Clinically, urine samples show increased levels of dermatan sulfate (DS) and an increase in white blood cell granules. Organs and tissues can also be compromised by accumulation of intercellular DS. It seems that cats with one copy of the severe and one copy of the mild form are unlikley to show symptoms.
The severe mutation: s
The mild mutation: m
Possible genotypes:
N/N Normal, cat does not have either the server or the mild mutations
N/s Carrier, cat has one copy of severe mutation but is healthy
N/m Carrier, cat has one copy of MPSVIm mutation but is healthy
s/s Affected, cat has 2 copies of the severe S mutation
m/m Affected, cat has 2 copies of the mutation
m/s Cat has one copy each of the severe and one copy of the mild mutation but may be otherwise healthy |
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Trait of Inheritance |
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Autosomal recessive
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Inheritance :
trait
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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 4 tests
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£ 66.00 (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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