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Junctional epidermolysis bullosa ( Herlitz-JEB1 ) ( JEB1 / H-JEB1)
Test number: 8072 (this test number replaces the old 8072HGD)
Gene: JEB1
Price: £ 48.00 (including VAT)
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Breeds
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Belgian Horses
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Breton Horse
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Comtois
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The Disease |
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H-JEB is characterised by blister formation within the lamina lucida of the basement membrane zone. Clinical signs involve skin malformation resulting in blisters. Different areas of the body are affected, particularly the limbs. Affected foals die soon after birth.
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Description |
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PCR
The genetic defect leading to the disease has been identified. By DNA testing, the responsible mutation can be shown directly. This method provides a very high accuracy test and can be done at any age. It offers the possibility to distinguish not only between affected and clear dogs, but also to identify clinically healthy carriers. This is an essential information for controlling the disease in the breed, as carriers are able to spread the disease in the population, but can not be identified by means of common laboratory diagnostic.
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Trait of Inheritance |
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H-JEB is an inherited autosomal recessive trait. This means that a horse can be clear (homozygous normal), affected, or a carrier (heterozygous). The carriers can spread the diseased gene in the population. Therefore, reliable information on non-affected dogs is the key to control this disease
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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 Junctional epidermolysis bullosa ( Herlitz-JEB1 ) ( JEB1 / H-JEB1). The horse will never pass the mutation to its offspring, and therefore it can be bred to any other horse.
Carrier
Genotype: N / JEB1 [ 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 Junctional epidermolysis bullosa ( Herlitz-JEB1 ) ( JEB1 / H-JEB1) 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: JEB1 / JEB1 [ 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 Junctional epidermolysis bullosa ( Herlitz-JEB1 ) ( JEB1 / H-JEB1) 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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