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Primary Lens Luxation (PLL)

Test number: 8226 (this test number replaces the old 8226D)
Gene: PLL
Price: £ 48.00 (including VAT)
Breeds
American Eskimo , American Hairless Terrier , Australian Cattle Dog , Chinese Crested , Danish Swedish Farmdog , Fox Terrier , German Hunting Terrier , Jack Russell Terrier , Jagd Terrier , Lakeland Terrier , Lancashire Heeler , Lucas Terrier , Miniature Bull Terrier , Norfolk Terrier , Norwich Terrier , Parson Russell Terrier (PRT) , Patterdale Terrier , Pug , Rat Terrier , Sealyham Terrier , Teddy Roosevelt Terrier , Tenterfield Terrier , Tibetan Terrier , Toy Fox Terrier , Volpino Italiano , Welsh Terrier , Westphalia Terrier , Wire-haired Fox Terrier , Yorkshire Terrier .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in Chinese Crested, Jack Russell Terrier, Lancashire Heeler, Miniature Bull Terrier, Parson Russell Terrier (PRT), Sealyham Terrier, Tibetan Terrier, and Welsh Terrier.

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.

The Disease
The zonula fibres secure the position of the lens. Dogs affected from PLL have painful glaucomas and blindness due to a dislocation of the lens due to a breakdown or disintegration of the zonula fibres. PLL can be inherited or acquired. Therefore the disease might also affect genetically free dogs. First clinical signs of the inherited form of PLL are detectable at the very young age of 20 months. A complete lens luxation typically occurs at the age of 3 to 8 years.
Trait of Inheritance
Recently, Cathryn Mellersh and colleagues (Farias et al., 2010) identified a mutation in the gene ADAMTS17 that is responsible for the development of inherited PLL.

The mode of inheritance of PLL is autosomal recessive. This means that PLL-affected dogs receive one mutated gene (allel) from the mother as well as from the father. Hence, the parents need to carry at least one mutated allel.

In most cases heterozygous carriers are healthy. However, it is estimated that about 2 – 20 % of the carriers will develop PLL.


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 dog is noncarrier of the mutant gene.

A dog like this is healthy and does not carry the mutated allel responsible for PLL disease. Offspring of this dog will not get the mutated allel.

 

Carrier

Genotype: N / PLL [ Heterozygous ]

The dog carries one copy of the mutant gene and one copy of the normal gene.

The dog has one copy of the normal allel and in addition one copy of the mutated allel. Carriers have a low risk of developing PLL, however they will pass on the mutation to their offspring. In most cases heterozygous carriers are healthy. However, it is estimated that about 2 – 20 % of the carriers will develop PLL

 

Affected

Genotype: PLL / PLL [ 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 has two copies of the mutated allel. Affected dogs have a high risk of developing PLL during their lifetime. The mutated allel will be passed to 100% of the offspring. It is recommended to examine the eyes of genetically affected dogs every 6 months by a specialist in order to detect the clinical signs of PLL as early as possible.
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
1 - 2 weeks
Price
£ 48.00 (including VAT)

To order:




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