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Primary ciliary dyskinesia (PCD)
Test number: 8483 (this test number replaces the old 8306D)
Gene: PCD
Price: £ 48.00 (including VAT)
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Breeds
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Alaskan Malamute
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Australian Shepherd
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Bobtail
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Miniature American Shepherd
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Old English Sheepdog (Bobtail)
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Kennel Club
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This test is part of the Official UK Kennel Club DNA Testing Scheme in Old English Sheepdog (Bobtail).
for UK registered dogs, Laboklin can send results of the tests which are part of the Official UK Kennel Club DNA testing scheme to the Kennel Club (KC) to be recorded and published
as part of the Kennel Club scheme. Results will only be recorded and published by the KC if the result report includes the dog’s
microchip or tattoo number along with either the dog’s registered name or registered number. Any test results that do not carry these identifying
features will not be recorded by the Kennel Club.
In order to ensure that test results are sent to the Kennel Club, customers must also sign the declaration section on the order form to give Laboklin permission to do so.
important:
When you sign the declaration, Laboklin will send the results to the KC on your behalf, and you do not need to send them to the KC yourself again to avoid unnecessary duplications.
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Description |
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Primary ciliary dyskinesia (PCD) is an autosomal-recessive genetic disease characterised by recurrent infections of the respiratory tract, reduced male fertility, and, in approximately 50% of affected dogs, situs inversus (Kartagener syndrome). The underlying cause is a motility defect in the respiratory cilia responsible for airway clearance and in the flagella responsible for propelling sperm cells.
In Old English Sheepdogs, PCD is caused by a mutation in the CCDC39 gene, whereas in Alaskan Malamutes, it is caused by a mutation in the NME5 gene. Dogs affected by PCD in these breeds often suffer from recurrent respiratory infections, and males may experience reduced fertility due to impaired sperm motility. Additionally, approximately half of the affected dogs develop situs inversus—a mirrored positioning of the internal organs—caused by a disturbance in early embryonic development.
In the breeds Australian Shepherd and Miniature American Shepherd, a genetic variant of the STK36 gene has also been identified as associated with PCD. Affected dogs in these breeds suffer from recurrent rhinitis and nasal discharge starting just a few weeks after birth. Symptoms include sneezing and yellow-greenish nasal discharge, which improve temporarily with antibiotic treatment but recur after discontinuation.
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Trait of Inheritance |
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Autosomal recessive 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 dog is noncarrier of the mutant gene.
It is very unlikely that the dog will develop Primary ciliary dyskinesia (PCD). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.
Carrier
Genotype: N / PCD [ Heterozygous ]
The dog carries one copy of the mutant gene and one
copy of the normal gene.
It is very unlikely that the dog will develop Primary ciliary dyskinesia (PCD) 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 dogs. Avoid breeding carrier to carrier because 25% of their offspring is expected to be affected (see table above)
Affected
Genotype: PCD / PCD [ Homozygous mutant ]
The dog carries two copies of the mutant gene and
therefore it will pass the mutant gene to its entire offspring.
The dog is likely to develop Primary ciliary dyskinesia (PCD) and will pass the mutant gene to its entire offspring
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Price
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£ 48.00 (including VAT)
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