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Shih Tzu DNA bundle (MTC, KLK, JPH2-PRA, DVL2)
Test number: 8835
Price: £ 132.00 (including VAT) for all 4 tests
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1 ) Macrothrombocytopenia ( MTC-D )
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Breeds
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American Cocker Spaniel
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Bichon Frise
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Boxer
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Cavalier King Charles Spaniel
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Cavapoo
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Chihuahua
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Cocker Spaniel
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Dwarf poodle
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English Cocker Spaniel
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Havanese - Bichon Havanese
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Jack Russell Terrier
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Labrador Retriever
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Maltese
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Miniature Poodle
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Parson Russell Terrier (PRT)
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Poodle
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Shih Tzu
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Standard Poodle
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Toy Poodle
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Description |
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Macrothrombocytopenia ( MTC ) is inherited as an autosomal dominant trait characterized by low platelet count and the presence of some larger than normal platelets in circulation.
Unlike acquired macrothrombocytopenia (thrombocytopenias secondary to infectious agents, medications, immune-mediated causes), this form does not respond to treatment.
It is important to note that these dogs may mistakenly be considered to have an underlying disease that results in thrombocytopenia, such as immune-mediated thrombocytopenia, tick-borne infection, or a bone marrow disorder.
TC ) is inherited as an autosomal dominant trait and results can be Clear (N/N), Affected heterozygous (N / MTC), Affected homozygous (MTC / MTC)
A RECESSIVE form of MTC is found in other breeds click on the following link for further details: Recessive Macrothrombocytopenia (MTC) .
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2 ) Prekallikrein Deficiency (KTK) / Fletcher Factor Deficiency
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The Disease |
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Prekallikrein deficiency (Fletcher Trait) is rare inherited autosomal recessive bleeding disorder characterized by slow healing, abnormal bleeding following surgeries and sometimes excessive gastrointestinal bleeding or presence of blood in the urine.
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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 Prekallikrein Deficiency (KTK) / Fletcher Factor Deficiency. The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.
Carrier
Genotype: N / KTK [ 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 Prekallikrein Deficiency (KTK) / Fletcher Factor Deficiency 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: KTK / KTK [ 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 Prekallikrein Deficiency (KTK) / Fletcher Factor Deficiency and will pass the mutant gene to its entire offspring
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3 ) Progressive Retinal Atrophy (JPH2 - PRA )in Shih Tzu
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The Disease |
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Progressive retinal atrophy (PRA), common autosomal recessive disorder affecting several dog breeds including Shih Tzu, is characterized by degeneration of photoreceptors leading to blindness. A mutation in the JPH2 gene has been identified to be responsible for PRA in the Shih Tzu breed and the test is now available at Laboklin.
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Trait of Inheritance |
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Autosomal recessive trait
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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 Progressive Retinal Atrophy (JPH2 - PRA )in Shih Tzu. The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.
Carrier
Genotype: N / JPH2 [ 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 Progressive Retinal Atrophy (JPH2 - PRA )in Shih Tzu 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: JPH2 / JPH2 [ 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 Progressive Retinal Atrophy (JPH2 - PRA )in Shih Tzu and will pass the mutant gene to its entire offspring
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4 ) Robinow-like Syndrome ( DVL2 )
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Breeds
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All Dog Breeds
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American Bulldog
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American Pitbull Terrier
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American Staffordshire Terrier
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Boston Terrier
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Bulldog (English)
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Continental Bulldog
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Dogue de Bordeaux (French Mastiff)
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French Bull Dog
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Olde English Bulldogge
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Shih Tzu
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Staffordshire Bull Terrier
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The Disease |
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Robinow-like-Syndrome (DVL2)
With their small size, stubby faces and wide-set eyes, bulldogs, French bulldogs and Boston terriers are among the most popular of domestic dog breeds. Now researchers at the University of California, Davis, School of Veterinary Medicine have found the genetic basis for these dogs’ appearance, and linked it to a rare inherited syndrome in humans.
Genetic variants of the Dishevelled 1 (DVL1) and 3 (DVL3) genes cause the so-called Robinow syndrome in humans , which can be characterized by distinctive facial features (prominent forehead, widely spaced eyes, flat nasal bridge) as well as mesomelic limb shortening (middle parts of limbs are disproportionately short) and cardiac, oral and urogenital anomalies.
English Bulldogs, French Bulldogs and Boston Terriers
In English Bulldogs, French Bulldogs and Boston Terriers, a variant of the DVL2 gene has been found to be fixed (always homozygous for the variant DVL/DVL). This genetic variant leads to altering a protein that affects an important cell-to-cell communication system, which is crucial for tissue development.
The typical phenotype of these breeds includes a wide head, a short muzzle (brachycephaly), widely spaced eyes and a small size. Malformed, fused or lacking caudal vertebrae which leads to truncated and kinked tails, so that the breeds are also called screw tail breeds.
In these three breeds, the DVL2 variant has been found to segregate with the breed defining phenotype as well as thoracic and caudal vertebral malformations in a recessive manner, however, regarding to the thoracic vertebral malformations, the variant seems to have an incomplete and variable penetrance between different breeds. Moreover, the DVL2 variant contributes to the brachycephalic phenotype, in addition to other known genetic variants of the SMCO2 and BMP3 gene. The DVL2 variant could also be linked to other health concerns like the brachycephalic obstructive airway syndrome (BOAS) and congenital heart defects, but this is still part of ongoing research.
In other none-screw tail breeds
Beside the screw tail breeds, the DVL2 variant has also been found homo- or heterozygous in the Pit bull, Staffordshire Bull Terrier, Shih Tzu, American Staffordshire Terrier, Dogues de Bordeaux, Old English Bulldog and American Bulldog. In these breeds, the DVL2 variant seems to be associated with a brachycephalic phenotype and caudal vertebral malformations as well. However, in contrast to the screw tail breeds, the total number of the vertebrae is not reduced and the tail is not completely malformed. Furthermore, no thoracic vertebral malformations have been observed, perhaps due to the variable penetrance of this trait. |
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Price
for the above 4 tests
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£ 132.00 (including VAT)
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