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Burmese DNA bundle (Hypokalemia (BHK) + Head Defect + Gangliosidosis (GM2) + Blood Groups



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new test:      Paradoxical Pseudomyotonia (PP) in English Cocker and English Springer Spaniels  
new test:      Dyserythropoietic Anemia and Myopathy Syndrome (DAMS) in English Springer Spaniel
new test:      Lysosomal Storage Diseases (LSD) in Dalmatian and Doberman  
new Kennel Club DNA testing schemes with LABOKLIN:
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Gangliosidosis GM2

Test number: 8864 (this test number replaces the old 8041K)
Gene: GM2
Price: £ 48.00 (including VAT)
Breed
Korat .
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.

Trait of Inheritance
Autosomal Recessive

Inheritance : AUTOSOMAL RECESSIVE trait


 

Sire

 

Dam

 

Offspring

         
clear
clear
100% clear
         
clear
carrier
50%  clear + 50% carriers
         
clear
affected
100% carriers
         
carrier
clear
50%  clear + 50% carriers
         
carrier
carrier
25% clear + 25% affected + 50% carriers
         
carrier
affected
50% carriers + 50% affected
         
affected
clear
100%  carriers
         
affected
carrier
50% carriers + 50% affected
         
affected
affected
100% affected

 


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
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
2 - 3 weeks
Price
£ 48.00 (including VAT)

To order:




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See also:

 
 
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