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Hypokalemia / Familial Episodic Hypokalaemic Polymyopathy (BHK)

Test number: 8453C

BHK

Breeds
Australian Mist , Burmese , Cornish Rex , Devon Rex , Singapura , Sphynx , Tonkinese .
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

Trait of Inheritance
.

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

To order:

  • Download Order Form from this link pdf

  • Complete the order form and send it together with your samples to the following address:

    Laboklin (UK),   125 Northenden Road, Manchester, M33 3HF

See Also:
HCM 1 (Hypertrophic cardiomyopathy ) Mutation Meurs (G-- > C) A31P  
Autoimmune Lymphoproliferative Syndrome (ALPS)  
HCM (Hypertrophic Cardiomyopathy)  
PKD (Feline Polycystic Kidney Disease)  
PK Deficiency (Pyruvate Kinase Deficiency)  
rdAc-PRA (Progressive Retinal Atrophy )  
Genetic Blood groups in cats  
SMA (Spinal Muscular Atrophy )  
Serological Evaluation of blood Groups  
Head Defect (BHD) *  
Alpha-Mannosidosis (AMD)  
Congenital Myasthenic Syndrome (CMS)  
Gangliosidosis GM1  
Gangliosidosis GM2  
Gangliosidosis GM2  
Mucopolysaccharidosis Type VI (MPS VI)  
Mucopolysaccharidosis type VII (MPS VII)  
Myotonia Congenita (Fainting Goat)  
pd - Progressive Retinal Atrophy (pd-PRA)  
Progressive Retinal Atrophy (rdy-PRA)  
HCM1 + PK Deficiency + SMA  
Hypotrichosis and Short Life Expectancy  
Bengal Progressive Retinal Atrophy (PRA-b) *  
Special Offer: HCM, HCR, GSD4, PKD, PRA, PK-Def., SMA, Blood Groups  
Osteochondrodysplasia (Scottish Fold Osteodystrophy)  
Primary Congenital Glaucoma (PCG)  
Cystinuria (Feline Cystinuria) (CY)  
Glycogen Storage Disease ( GSD ) Type IV  

 
 
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