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Rhodesian Ridgeback DNA Bundle (DM2 + Haemophilia B + B Locus + JME + D Locus)
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1 ) Haemophilia B (factor IX deficiency)
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Breeds
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Hovawart
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Lhasa Apso
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Rhodesian Ridgeback
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The Disease |
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In cooperation with Prof. Dr. Mischke (Tierärztliche Hochschule Hannover) LABOKLIN was able to identify a missense-mutation in exon 7 of the factor IX gene that is responsible for the lack of active factor IX protein in Rhodesian Ridgeback Dogs.
Haemophilia B is a sex-linked disorder (x-chromosomal recessive). Male dogs express the disease when they have one mutated x-chromosome. The mutated x-chromosome comes from the bitch. In most cases female dogs are carrier of one mutated x-chromosome without being diseased (conductor). According to Mendel's Law of Inheritance, 50% of the male puppies of a carrier bitch will have the mutated x-chromosome and express the disease and 50% of the female puppies will be healthy carriers (conductors). Female dogs will be diseased when they have two mutated x-chromosomes (one from the mother, one from the father). In that case both, father and mother must have the mutated x-chromosome (e.g. diseased male dog bred to conductor bitch). |
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Trait of Inheritance |
1. Homozygous healthy:
Genotype female: N(X)/N(X),
Genotype male: N(X)/Y (homozygous healthy)
A dog like this is healthy and does not carry the mutated x-chromosome. Offspring of this dog will
not get the mutated x-chromosome.
2. Heterozygous carrier (only female):
Genotype female: N(X)/FIX(X) (heterozygous carrier)
A bitch like this carries one copy of the mutated gene. It is unlikely that the bitch will suffer from
haemophilia B, however there is a 50% chance that she will pass on the mutation to her offspring.
3. Homozygous affected:
Genotype female FIX(X)/FIX(X) (homozygous affected)
Genotype male FIX(X)/Y (hemizygous affected)
Because of the x-chromosomal mode of inheritance, a homozygous affected female dog carries
two mutated x-chromosomes and a homozygous affected male dog carries one mutated
x-chromosome. Female and male homozygous affected dogs have a high risk to express
haemophilia B. The bitch will pass on the mutation to a 100% of her offspring and 50% of
the offspring of the male dog will get the mutated x-chromosome. |
Inheritance : X-LINKED
RECESSIVE
trait
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Sire |
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Dam |
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Offspring |
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Males |
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Females |
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clear
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clear
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100% clear
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100% clear
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clear
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carrier
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50% clear + 50%
affected
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50% clear + 50%
carriers
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clear
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affected
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100% affected
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100% carriers
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affected
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clear
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100% clear
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100% carriers
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affected
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carrier
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50% affected + 50% clear
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50% affected + 50%
carriers
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affected
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affected
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100% affected
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100% affected
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Male:
Clear
Genotype: N [ normal ]
The dog is noncarrier of the mutant gene.
The dog will never develop Haemophilia B (factor IX deficiency) and therefore it can be used in breeding and should only be bred to clear females.
Affected
Genotype: FIX [ mutant ]
The dog carries the mutant gene and will pass it its entire female offspring.
The dog will develop Haemophilia B (factor IX deficiency) and will pass the mutant gene to its entire female offspring
Female:
Clear
Genotype: N / N [ Homozygous normal ]
The dog is noncarrier of the mutant gene.
The dog will never develop Haemophilia B (factor IX deficiency) and therefore it can be used in breeding and should only be bred to clear females.
Carrier
Genotype: N / FIX [ Heterozygous ]
The dog carries one copy of the mutant gene and one
copy of the normal gene.
The dog will never develop Haemophilia B (factor IX deficiency) but since it carries the mutant gene, it can pass it on to its offspring.
Affected
Genotype: FIX / FIX [ 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 will develop Haemophilia B (factor IX deficiency) and will pass the mutant gene to its entire female offspring
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Description |
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DNA test
The mutation responsible for haemophilia B can now be identified using our DNA-test. The test can be performed on dogs of any age and even puppies can be tested. The DNA test does not only differentiate healthy and diseased dogs, but furthermore identifies healthy carrier (female) dogs. This is of crucial importance for dog breeders.
To achieve a maximum reliability of the test result, we perform the DNA-test of each submitted sample in two independent test runs.
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Sample Requirements |
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal swabs. . |
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Turnaround |
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1 - 2 weeks
We will run this test 2 independant times on your sample to ensure that the result is 100% accurate
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2 ) Degenerative Myelopathy / Degenerative Radiculomyelopathy) DM (Exon 2)
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Breeds
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Airedale Terrier
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Alaskan Malamute
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All Dog Breeds
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American Eskimo
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Bernese Mountain Dog
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Bloodhound
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Borzoi (Russian Wolfhound)
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Boxer
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British Timber Dog
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Cavalier King Charles Spaniel
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Canaan Dog
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Cardigan Welsh Corgi
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Chesapeake Bay Retriever
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Fox Terrier
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French Bull Dog
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German Shepherd
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Glen Of Imaal Terrier ( GIT )
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Golden Retriever
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Pyrenean Mountain Dog (Great Pyrenees)
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Hovawart
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Pumi ( Hungarian Pumi / Pumik )
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Jack Russell Terrier
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Kerry Blue Terrier
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Labrador Retriever
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Lakeland Terrier
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Northern Inuit
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Nova Scotia Duck tolling Retriever ( NSDTR )
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Pembroke Welsh Corgi
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Poodle
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Pug
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Rhodesian Ridgeback
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Rough Collie
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Soft Coated Wheaten Terrier
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Shetland Sheepdog (Sheltie)
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Smooth Collie
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Utonagan
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Wire Fox Terrier
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Kennel Club
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This test is part of the Official UK Kennel Club DNA Testing Scheme in Chesapeake Bay Retriever , French Bull Dog , German Shepherd , Nova Scotia Duck tolling Retriever ( NSDTR ) , Rough Collie , and Smooth Collie.
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The Disease |
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Canine degenerative myelopathy (also known as chronic degenerative radiculomyelopathy) is a progressive disease of the spinal cord in older dogs. The disease has an insidious onset typically between 7 and 14 years of age. It begins with a loss of coordination (ataxia) in the hind limbs. As of July 15, 2008 the mutated gene responsible for DM has been found present in 43 breeds including German Shepherds, Boxers, Chesapeake Bay Retrievers, Rhodesian Ridgebacks, and both breeds of Welsh Corgis. The disease is chronic and progressive, and resulting in paralysis.
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Clinical Signs |
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Degenerative myelopathy initially affects the back legs and causes muscle weakness and loss, and lack of coordination. These cause a staggering effect that may appear to be arthritis. The dog may drag one or both rear paws when it walks. This dragging can cause the nails of one foot to be worn down. The condition may lead to extensive paralysis of the back legs. As the disease progresses, the animal may display symptoms such as incontinence and has considerable difficulties with both balance and walking. If allowed to progress, the animal will show front limb involvement and extensive muscle atrophy. Eventually cranial nerve or respiratory muscle involvement necessitates euthanasia.
Progression of the disease is generally slow but highly variable. The animal could be crippled within a few months, or may survive up to three years
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Trait of Inheritance |
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Tow alleles are invloved in Degenerative Myelopathy, A and G, therefore a test result can be A/A, A/G, or G/G.
Mode of inheritance is autosomal recessive with variable penetrance;
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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 show signs of the Degenerative Myelopathy
Carrier
Genotype: N / DM (Exon 2) [ 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 show signs of the Degenerative Myelopathy
Affected
Genotype: DM (Exon 2) / DM (Exon 2) [ 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 may or may not show signs of the disease
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Sample Requirements |
Buccal swabs or 0.5 - 1 ml blood in EDTA Blood Tube . |
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3 ) Coat Colours: D-Locus D1 ( Dilution )
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Breeds
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All Dog Breeds
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Border collie
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Boston Terrier
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Bulldog
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Chihuahua
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Doberman Pinscher
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French Bull Dog
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German Pinscher
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Koolie ( Australian Koolie )
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Labrador Retriever
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Large Munsterlander
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Miniature Pinscher
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Newfoundland
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Rhodesian Ridgeback
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Staffordshire Bull Terrier
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Description |
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The D locus is the primary locus associated with diluted pigment, which results in coats that would otherwise be black or brown instead showing up as gray, or blue in the case of black, and pale brown or Isabella in the case of brown. The melanophilin gene has recently been shown to be responsible, but not all of the dilute causing mutations have been identified yet.
A recessive mutation in the melanophilin gene was identified as the cause of colour dilution phenotypes in the dog. Two alleles (variants) are described: the dominant full colour (D) and the recessive dilute (d). Two copies of dilute are needed to lighten black pigment to grey (often called blue) and red pigment to cream (also called buff). A diagnostic DNA test identifies the specific variants of the MLPH gene.
Please note that in the Chow Chow, Thai Ridgeback and Sloughi breeds, there is another mutation that can cause coat colour dilution, it is the D2 Locus mutation and in those breeds both D1 Locus and D2 Locus mutations must be tested for complete analysis.
Please note that in the Chihuahua, Italian Greyhound and Hungarian Pumi breeds, there is another mutation that can cause coat colour dilution, it is the D3 Locus mutation and in those breeds both D 1Locus and D3 Locus mutations must be tested for complete analysis.
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Sample Requirements |
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal swabs. . |
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4 ) Juvenile Myoclonic Epilepsy ( JME )
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Breed
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Rhodesian Ridgeback
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Kennel Club
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This test is part of the Official UK Kennel Club DNA Testing Scheme in Rhodesian Ridgeback.
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The Disease |
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Juvenile Myoclonic Epilepsy (JME) in Rhodesian Ridgebacks
JME is an inherited disease in the Rhodesian Ridgeback breed. Affected dogs start showing symptoms between the age of 6 weeks and 18 months. Symptoms include frequest myoclonic jerks or twiches especially when the dogs are sleeping or resting. Photo sensitivity has also been noticed in affected dogs. Most affected dogs will also develop more severe generalized and tonic clonic seizures.
Due to the recessive mode of inheritance, affected dogs must inherit two copies of the mutation, one from each parents.
The test will tell you if your dog has 0, 1 or 2 copies of the mutation. Clear (N/N) and carriers (N/ JME) are healthy dogs and will not develop the specific symptoms associated with the JME mutation, however carriers should only be bred to clear dogs to avoid having affected puppies.
Please note that there are other forms of epilepsy that cannot be eliminated by this test. |
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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 Juvenile Myoclonic Epilepsy ( JME ). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.
Carrier
Genotype: N / JME [ 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 Juvenile Myoclonic Epilepsy ( JME ) 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: JME / JME [ 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 Juvenile Myoclonic Epilepsy ( JME ) and will pass the mutant gene to its entire offspring
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Sample Requirements |
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal swabs. . |
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5 ) Coat Colour: B Locus (Brown Coat Colour)
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Breeds
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All Dog Breeds
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American Cocker Spaniel
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Australian Shepherd
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Bedlington Terrier
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Border collie
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Cardigan Welsh Corgi
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Dachshund
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Dalmatian
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Doberman Pinscher
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English Cocker Spaniel
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Flatcoated Retriever
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Fox Terrier
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French Bull Dog
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Galgo Espanol
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German Longhaired Pointer
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German Shorthair Pointer
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Gordon Setter
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Griffon Bruxellois
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Irish Soft Coated Wheaten Terrier
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Koolie ( Australian Koolie )
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Labrador Retriever
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Miniature Pinscher
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Newfoundland
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Pointer
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Portuguese Waterdog
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Scottish Terrier
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Weimaraner
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Description |
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The B locus is responsible for the presence of brown, chocolate, or liver coat colour. It is also responsible for nose colour. In breeds where the A locus does not come into play, any dog that has at least one B allele (and is not 'ee'), will be black in the pigmented areas of the coat. If the dog has two copies of any of several b alleles will be brown. There are at least three such b alleles. Regardless of other loci, any dog with at least one B allele will have a black nose and pads, while those with any two b alleles will have a liver nose and pads.
This test checks if the dog carries 0, 1 or 2 copies of the mutations typically responsible for the brown coat colour, which is also known in some breeds as liver, chocolate, sedge, and less frequently, red. There are three primary 'b' mutations that are responsible for nearly every liver or chocolate dog. A notable exception is the French Bulldog where in addition to these three mutations, there is a fourth cause of chocolate that has yet to be identified.
In some breeds such as Gordon Setter this coat colour is referred to as liver.
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Sample Requirements |
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal swabs. . |
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Price
for the above 5 tests
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£ 156.00 (including VAT)
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| To order:
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Download
Order Form from this link 
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Complete the order form and send it together
with your samples to the following address:
Laboklin (UK), 125 Northenden Road, Manchester, M33 3HF
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