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new tests:
new
Kennel Club
DNA testing schemes with LABOKLIN:
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Glycogen Branching Enzyme Deficiency (GBED)
Test number: 8137 (this test number replaces the old 8303H)
Gene Name: GBED
Short Name: GBED
Price: £ 48.00 (including VAT)
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Breeds
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Appaloosas
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Paint Horse
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Quarter Horse (Horse with quarter horse blood)
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The Disease |
Affected foals lack the enzyme GBE that is necessary for synthesis and storage of glycogen. Predominantly affected are sceletal muscle, brain and heart. Clinical signs associated with GBED are:
-Abortion, dead or weak foals
-sudden death due to heart failure and or seizures
-tachypnoa due to weak sceletal muscle (diaphragm)
-generalised weakness, especially when getting up
There is no treatment available yet and up to now affected foals died or had to be euthanized.
Until recently GBED has not been recognized as a disease, mainly because the clinical signs are very similar to other diseases that typically affect foals. Furthermore, routine staining of muscle tissue post mortem was not suitable to detect GBED.
After the development of a genetic test to identify the mutation responsible for GBED, epidemiological studies revealed that about 10% of the horses belonging to QH, Paints and related blood lines carry the mutation. It is suspected that about 3% of the abortions of QH are due to this disease. |
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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 horse is noncarrier of the mutant gene.
It is very unlikely that the horse will develop Glycogen Branching Enzyme Deficiency (GBED). The horse will never pass the mutation to its offspring, and therefore it can be bred to any other horse.
Carrier
Genotype: N / GBED [ Heterozygous ]
The horse carries one copy of the mutant gene and one
copy of the normal gene.
It is very unlikely that the horse will develop Glycogen Branching Enzyme Deficiency (GBED) 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 horses. Avoid breeding carrier to carrier because 25% of their offspring is expected to be affected (see table above)
Affected
Genotype: GBED / GBED [ Homozygous mutant ]
The horse carries two copies of the mutant gene and
therefore it will pass the mutant gene to its entire offspring.
The horse is likely to develop Glycogen Branching Enzyme Deficiency (GBED) and will pass the mutant gene to its entire offspring
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Sample Requirements |
Hair Sample from mane with roots (approx 30 hairs) or 1 ml whole blood in EDTA tube.
How to obtain a viable hair sample
Pull around 30 hairs from the mane of the horse with the roots (in faols hair from the tail maybe taken). Wrap the hairs around your finger or a comb, as close as possible to the skin to ensure you obtain the hair roots. Keep dry, put in a bag, label the bag with the horse name, test (s) required. Place in an envelope and send back to us together with the order form. Broken or cut off hair will not be accepted.
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Price
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£ 48.00 (including VAT)
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| See also: |
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