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Burmese DNA bundle (Hypokalemia (BHK) + Head Defect + Gangliosidosis (GM2)
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1 ) Hypokalemia / Familial Episodic Hypokalaemic Polymyopathy (BHK)
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Breeds
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Australian Mist
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Burmese
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Cornish Rex
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Devon Rex
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Singapura
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Sphynx
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Tonkinese
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The Disease |
Burmese Hypokalemia (Familial Episodic Hypokalaemic Polymyopathy) is a recessive genetic characterized by episodes of low serum potassium levels and high CPK (creatine phosphate kinase, an enzyme that indicates muscle damage). Clinical Symptoms include episodes of skeletal muscle weakness which can affect all muscles of the cat body or it can be restricted to certain muscles. This is mostly seen in the neck muscles, but sometimes it affects the limbs only. As a result affected cats may have problems with walking and holding their head correctly. The disease is not typically fatal and can usually be managed by adding potassium supplements to the diet (consult yuor vet if your cat is affected).
The disease affects Burmese and Burmese related breeds such as Burmilla, Bombay, Cornish Rex, Devon Rex, Singapura, Sphynx, Australian Mist, Tiffanie, and Tonkinese.
The genetic mutation responsible for this disease has been identified by a team of researchers from the University of Bristol (England), the Lyons Feline Genetics Research Laboratory at UC Davis, University of Sydney, Massey University and Justus Liebig University. This discovery has allowed development of a genetic test that allows identification of carrier and affected cats.
* test performed by partner lab |
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Trait of Inheritance |
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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 Hypokalemia / Familial Episodic Hypokalaemic Polymyopathy (BHK). The cat will never pass the mutation to its offspring, and therefore it can be bred to any other cat.
Carrier
Genotype: N / BHK [ 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 Hypokalemia / Familial Episodic Hypokalaemic Polymyopathy (BHK) 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: BHK / BHK [ 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 Hypokalemia / Familial Episodic Hypokalaemic Polymyopathy (BHK) 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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2 ) Head Defect (BHD)
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The Disease |
A recessive mutation that causes a congenital craniofacial defect in Burmese cats has been identified by the Lyons Feline Genetics Research Laboratory at UC Davis.The mutation affects function of a gene significant for facial development.
Cats with one copy of the mutation will not have craniofacial defect but may produce a shortened facial structure (brachycephaly). Research is underway to determine if cats that have one copy or no copies of the mutation can be identified just by facial type. Two copies of the mutant allele can cause severe craniofacial defect that is severe enough to be compatible with life. |
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Trait of Inheritance |
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Autosomal recessive (see interpretation below)
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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 Head Defect (BHD). The cat will never pass the mutation to its offspring, and therefore it can be bred to any other cat.
Carrier
Genotype: N / BHD [ Heterozygous ]
The cat carries one copy of the mutant gene and one
copy of the normal gene.
Cats with one copy of the mutation will not have craniofacial defect but may produce a shortened facial structure (brachycephaly).
Affected
Genotype: BHD / BHD [ 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 Head Defect (BHD) 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 ) Gangliosidosis GM2
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The Disease |
The gangliosidosis GM2 is an inherited diseases of a category known as lysosomal storage diseases. Affected kittens have head tremors at the beginning followed by impaired co-ordination of leg movements which eventually lead to paralysis.
GM2 gangliosidosis is caused by a lack of the enzyme beta - hexosaminidase.
GM2 is inherited as autosomal recessive traits. This means that cats which inherit only one copy of the disease gene appear normal, but the mutation can be passed on to their kittens with a 50 percent chance.
Matings between clears to carriers will result in kittens with a 50/50 chance of being clear, a 50/50 chance of being carriers. Kittens produced by clear to carrier matings should be tested. Breeding carriers to carriers gives each kitten a 25 percent chance of being clear, a 50 percent chance of being a carrier, and a 25 percent chance of being GM affected.
The DNA-based tests differentiate between affected, carriers and affected cats.
These tests can be done reliably at any age, and the results are exactly accurate. |
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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 Gangliosidosis GM2. The cat will never pass the mutation to its offspring, and therefore it can be bred to any other cat.
Carrier
Genotype: N / GM2 [ 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 Gangliosidosis GM2 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: GM2 / GM2 [ 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 Gangliosidosis GM2 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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£ 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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