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Maine Coon 8 DNA tests bundle (HCM, SMA, PKDef, Poly, b, b1, cb, cs)
Test number: 8931
Price: £ 84.95 (including VAT) for all 6 tests
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Sample |
- eNat Swabs: Optimised Swab or
- EDTA: Whole blood in EDTA tube (0.5 - 1 ml)
please note that we cannot accept standard buccal swabs for this bundle.
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1 ) HCM 1 (Hypertrophic Cardiomyopathy)
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The Disease |
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HCM 1 (Hypertrophic Cardiomyopathy) Mutation Meurs A31P
Hypertrophic cardiomyopathy (HCM) is a clinically heterogeneous myocardial disease and is the most common cardiac disease identified in domestic cats.
HCM is characterised by an increased left ventricular mass due to an increase in wall thickness of the heart, with papillary muscle hypertrophy and systolic anterior motion of the Mitral valves. Subsequently, hypertrophy of the left heart chamber results in cardiac weakness and ultimately in heart failure.
Death by HCM can occur via three mechanisms:
(i) sudden cardiac death with arrhythmia and ventricular fibrillation,
(ii) heart failure with tachycardia, increased respiration, shortness of breath, pulmonary oedema and pleural effusion or
(iii) thrombus formation. Thrombi can form either in the left atrium due to abnormal blood
circulation or in the heart chamber itself due to severe hypertrophy and cardiac weakness.
Atrial thrombi can brake free and reach the arterial blood circuit, thereby often causing blood congestion at the branching of pelvic and crural arteries with paralysis of the hind legs. Echocardiographic examination has so far been the only diagnostic tool for this disease. However, it can only identify affected cats with some years of age, when they already present first symptoms of HCM. |
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Description |
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DNA test
By DNA testing the mutation can be shown directly. The testing is carried out by state of the art
laboratory methods and therefore provides a very high accuracy. In general DNA tests can be done at
any age.
The test can be applied to Maine Coon and Maine Coon related cats, which were cross bred to Maine
Coons. With this test we can diagnose the reported mutation, but by no means we can report on the
presence/absence of the disease (especially in breeds where the correlation of HCM disease and the
cited mutation is not proven). The results that are transmitted contain the information on
presence/absence of the G to C mutation in the MYBPC gene exon 3 in the sample of the cat
examined. We want to point out that there is still a small possibility of other mutations causing HCM
which are not identified so far.
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Trait of Inheritance |
HCM is inherited as a single autosomal dominant condition. Heterozygous animals show all clinical
signs of disease and can not live normal lives. They are able to propagate mutations throughout the
population. Generally, 50% of a HCM positive cats offspring will inherit HCM. Homozygously
affected animals for HCM show more severe clinical symptoms and will pass the defect gene onto all
of their offspring.
Recently, a mutation in the MYBPC gene which is suggested to cause HCM in cats was found by Dr.
Kathryn Meurs (Washington State University, USA). This mutation was found in most HCM affected
cats but not in cats which were tested free by means of echocardiographic techniques. In our
laboratory, we were also able to identify this mutation in european cats with HCM.
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Inheritance : AUTOSOMAL
DOMINANT
trait
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2 ) SMA (Spinal Muscular Atrophy )
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The Disease |
SMA is a disorder caused by death of spinal cord neurons that activate skeletal muscles of the trunk and limbs. Loss of neurons in the first few months of life leads to muscle weakness and atrophy that first becomes apparent at 3-4 months of age.
Affected kittens develop an odd gait with a sway of the hindquarters and stand with the hocks nearly touching. They may also stand with toes out in the front.
By 5-6 months of age they are too weak in the hindquarters to readily jump up on furniture and often have a clumsy landing when jumping down. The long hair Maine Coon cats may hide it, but careful feeling of the limbs will reveal reduced muscle mass. |
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Description |
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By DNA testing, the responsible mutation can be shown directly. This method provides a test with a very high accuracy and can be done at any age. It offers the possibility to distinguish not only between affected and clear cats, 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.
To ensure maximum test reliability, the test is always performed in two independent test runs per sample.
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Trait of Inheritance |
SMA is inherited as an autosomal recessive trait. So there are three conditions a cat can be: it can be clear or homozygous normal (genotype N/N) meaning that it does not carry the mutation and will not develop SMA. Since it also cannot pass the mutation onto its offspring, it can be mated to any other cat.
A cat which has one copy of the gene with the mutation and one copy without the mutation is called a carrier or heterozygous (genotype N/SMA); while it will not be affected by SMA, it can pass the mutation onto its offspring and should therefore only be mated to clear cats.
Affected kitten have two gene copies with the mutation (genotype SMA/SMA or homozygous affected); they will always pass the mutated gene onto their offspring. |
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 cat is noncarrier of the mutant gene.
It is very unlikely that the cat will develop SMA (Spinal Muscular Atrophy ). The cat will never pass the mutation to its offspring, and therefore it can be bred to any other cat.
Carrier
Genotype: N / SMA [ Heterozygous ]
The cat carries one copy of the mutant gene and one
copy of the normal gene.
It is very unlikely that the cat will develop SMA (Spinal Muscular Atrophy ) 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 cats. Avoid breeding carrier to carrier because 25% of their offspring is expected to be affected (see table above)
Affected
Genotype: SMA / SMA [ Homozygous mutant ]
The cat carries two copies of the mutant gene and
therefore it will pass the mutant gene to its entire offspring.
The cat is likely to develop SMA (Spinal Muscular Atrophy ) and will pass the mutant gene to its entire offspring
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3 ) PK Deficiency (Pyruvate Kinase Deficiency)
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Breeds
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Abyssinian
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Bengal (Leopard cat)
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Domestic Longhair
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Domestic Shorthair
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Egyptian Mau
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LaPerm Longhair
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LaPerm Shorthair
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Maine Coon
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Norwegian Forest Cat
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Ocicat
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Savannah
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Siberian
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Singapura
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Somali
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The Disease |
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Pyruvate kinase (PK) is an enzyme critical to the anaerobic glycolytic pathway of energy production in the erythrocyte. If erythrocytes are deficient in PK they are unable to sustain normal cell metabolism and hence are destroyed prematurely. This deficiency manifests as an hemolytic anemia of variable severity with a strong regenerative response.
In cats, PK deficiency has been described in Abyssinian and Somali cats. The feline disease differs from the canine disease in that affected cats can have a normal life span, only intermittently have anemia, and do not seem to develop either osteosclerosis or liver failure.
The clinical signs of disease reflect the anemic status of the animal and include exercise intolerance, weakness, heart murmur and splenomegaly.
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Description |
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PK - The Mutation-based Test and its Advantages
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.
If a particularly valuable animal turns out to be a carrier, it can be bred to a non-affected animal, and non-carrier puppies can be saved for the next round of breeding.
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Trait of Inheritance |
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PK is inherited as an autosomal recessive condition. Heterozygotes (carriers) do not have any clinical signs of disease and live normal lives. They are able to propagate mutations throughout the population however and it is therefore important that carrier animals are detected prior to breeding.
PK deficiency can be detected, using molecular genetic testing techniques. These tests identify both affected and carrier animals. It is also possible to identify animals deficient in PK activity through enzyme analysis in those breeds where a molecular genetic test is not available.
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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 cat is noncarrier of the mutant gene.
It is very unlikely that the cat will develop PK Deficiency (Pyruvate Kinase Deficiency). The cat will never pass the mutation to its offspring, and therefore it can be bred to any other cat.
Carrier
Genotype: N / PK [ Heterozygous ]
The cat carries one copy of the mutant gene and one
copy of the normal gene.
It is very unlikely that the cat will develop PK Deficiency (Pyruvate Kinase 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 cats. Avoid breeding carrier to carrier because 25% of their offspring is expected to be affected (see table above)
Affected
Genotype: PK / PK [ Homozygous mutant ]
The cat carries two copies of the mutant gene and
therefore it will pass the mutant gene to its entire offspring.
The cat is likely to develop PK Deficiency (Pyruvate Kinase Deficiency) and will pass the mutant gene to its entire offspring
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4 ) Polydactyly (extra toes) / polydactylism / Polydactyl / hyperdactyly
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Breeds
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Abyssinian
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All Cat Breeds
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American Curl Longhair
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American Curl Shorthair
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American Shorthair
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American Wirehair
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Anatoli
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Turkish Angora
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Arabian Mau
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Australian Mist
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British Shorthair (BSH)
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Balinese
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Bengal (Leopard cat)
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Birman (Sacred cat of Burma)
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Bombay
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Brazilian Shorthair
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British Longhair (BLH)
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Burmese
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Burmilla
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Canadian Sphynx
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Cat / Feline
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Ceylon cat
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Chartreux
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Chausie
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Colorpoint Shorthair
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Colourpoint
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Cornish Rex
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Crossbred / Mixed Breed
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Cymric cat
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Domestic Longhair
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Domestic Shorthair
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Devon Rex
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Donskoy (Don Sphynx / Russian Hairless)
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Egyptian Mau
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European Shorthair
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Exotic Shorthair
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Foldex
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German Longhair
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German Rex
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Himalayan
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Japanese Bobtail Longhair
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Japanese Bobtail Shorthair
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Javanese
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Kanaani
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Korat
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Kurilian Bobtail
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LaPerm Longhair
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LaPerm Shorthair
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Maine Coon
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Manx cat
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Munchkin
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Nebelung
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Neva Masquerade
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Norwegian Forest Cat
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Ocicat
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Ojos Azules
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Oriental Longhair (OLH
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Oriental Shorthair (OSH)
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Persian
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Persian Ragdoll
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Persian Related
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Peterbald
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Pixie Bob Longhair
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Pixie Bob Shorthair
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Ragdoll
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Ragdoll Related
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Russian Blue
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Savannah
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Scottish Fold Longhair
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Scottish Fold Shorthair
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Selkirk Rex Longhair
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Selkirk Rex Shorthair
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Serengeti
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Seychellois
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Siamese
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Siberian
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Singapura
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Snowshoe
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Sokoke
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Somali
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Sphynx
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Thai
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Tonkinese
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Toybob
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Toyger
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Turkish Van
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Ural Rex
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Various cat breeds
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Description |
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Polydactyly (extra toes) / polydactylism / Polydactyl / hyperdactyly (HW, UK1, UK2)
Polydactyly is a congenital physical anomaly, which causes the cat to be born with more than the usual number of toes on one or more of its paws.
Polydactyly is not painful for cats, and it is not known to be associated with any health problems and doesn't cause any health problems.
Polydactyly (extra toes) is a harmless anatomical anomaly commonly seen in Maine coon cats.
In Maine coon cats, polydactyly is caused by a mutation called the ‘Hemingway mutation’ (Hw) in the ZRS gene. This gene is involved in the formation of digits in paws. The Hw mutation causes different phenotypes and is very variable in expression. Cats with the Hw mutation can have up to 8 extra toes, however this can vary from only an enlargement of the standard dew claw, or making it a thumb (so still 5 toes), or only one poly paw (6 toes). Therefore, polydactyly varies from very minor expression (like only a nub) to having several extra digits.
Mitten Paws: this is when the cat has extra ‘thumb’ toes makes the paws look like mittens.
A total of three mutations have been identified so far in polydactyl cats: the Hw mutation in Maine coon and PixieBob cats, and the UK1 and UK2 mutations in British domestic short hair cats.
There are other , yet, unidentified mutations which cause polydactyly, for example the Canadian lines of polydactyl Maine coon cats don’t have the Hw, UK1 or UK2 mutations.
Furthermore, the mutation which is responsible for ‘pattyfoot’ (extra toes but no ‘thumb’) has not yet been identified and cannot be detected by this test.
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Trait of Inheritance |
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Mutations resulting in polydactyly are known to be inherited as an autosomal dominant trait with high penetrance.
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Inheritance : AUTOSOMAL
DOMINANT
trait
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5 ) Chocolate and Cinnamon coat colours
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Description |
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Chocolate and cinnamon coat colours
The coat colours chocolate and cinnamon are caused by mutations in the gene TYRP1 (tyrosinase-related protein 1) which is involved in the production of the black colour pigment eumelanin. This gene locus is called B-locus. The brown variants show a suggested allelic series, with the following dominance pattern: B > b > b1.
The B allele is dominant and represents the normal the wild type black coat colour. Cats with brown genotypes bb or bb1 have a chocolate phenotype, whereas cats with the light brown genotype b1b1 have a cinnamon phenotype, independent of B and b alleles.
How can the different genotypes for the colours chocolate and cinnamon and the Siamese and Burmese patterns be identified ?
Recently, the mutations leading to the different coat colours have been found in the USA, thus permitting the development of a genetic test for each of the colours. After validating these tests in collaboration with several german veterinarians and cat breeders, Laboklin can now offer the tests to all interested breeders. For the coat colour chocolate, Laboklin tests the four most important gene loci, therefore ensuring a very reliable test. For the coat colour cinnamon as well as the Siamese and Burmese coat patterns, only one mutation has been published to be responsible for the corresponding colour.
How does the genetic test work and how safe is it?
Firstly, the DNA which is the genetic information of an animal is isolated from a blood or a cheek swab sample. Then the genes of interest are amplified a million-fold by PCR (polymerase chain reaction) to facilitate the following analysis. The analysis is automatically performed by a genetic analyzer and reveals the gene sequence of the region of interest.
Therefore, the mutations leading to the different coat colours can be seen directly and heterozygous carriers of these mutations can also be identified. Since the test is done mainly automatically, laboratory errors can be widely excluded.
Interpretation of the test results
The test results will be submitted separately for each coat colour, so that the genotype for each corresponding gene locus will be given.
Test results exemplary for cinnamon:
Genotype BB: the cat is homozygous for the wild type allele. The cat does not carry cinnamon and will not pass it onto its offspring.
Genotype Bb1: the cat is heterozygous for the cinnamon allele. The cat carries cinnamon and can pass the gene onto its offspring with a probability of 50%.
Genotype b1b1: the cat is homozygous for the cinnamon allele. The cat will phenotypically show cinnamon coat colour (maybe in diluted form as fawn) and will pass the gene onto its offspring with a probability of 100%.
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6 ) Colourpoint Siamese and Burmese ( Siamese , Burmese and Mink )
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Description |
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Siamese and Burmese patterns
The Siamese pattern is reponsible for a phenotype representing a mild form of albinism. This temperature-sensitive mutation produces normal colour pigment only at the cooler extremities of the body, causing a mask of the face as well as darkened paws and tail. The Siamese pattern is also called mask factor or point, since normal pigmentation occurs only at the cooler points of the body.
The Burmese pattern, the mildest form of albinism, is characterized by a normal pigmentation of the extremities and a slight shading of normal body colour.
Two mutations in the gene encoding the enzyme tyrosinase which is required for melanin production are responsible for these colour variants. This gene locus is called C-locus. The wild type allele C is dominant and causes full pigmentation, the Siamese cs allele is recessive and leads to the characteristic distribution of the dark colour on ears, mask, tail and legs when in the homozygous state. The Burmese pattern also follows a recessive inheritance and leads to the coat colour Burmese brown in the homozygous state, with varying degrees of black and dark brown.
How can the different genotypes for the colours chocolate and cinnamon and the Siamese and Burmese patterns be identified ?
Recently, the mutations leading to the different coat colours have been found in the USA, thus permitting the development of a genetic test for each of the colours. After validating these tests in collaboration with several german veterinarians and cat breeders, Laboklin can now offer the tests to all interested breeders. For the coat colour chocolate, Laboklin tests the four most important gene loci, therefore ensuring a very reliable test. For the coat colour cinnamon as well as the Siamese and Burmese coat patterns, only one mutation has been published to be responsible for the corresponding colour.
How does the genetic test work and how safe is it?
Firstly, the DNA which is the genetic information of an animal is isolated from a blood or a cheek swab sample. Then the genes of interest are amplified a million-fold by PCR (polymerase chain reaction) to facilitate the following analysis. The analysis is automatically performed by a genetic analyzer and reveals the gene sequence of the region of interest.
Therefore, the mutations leading to the different coat colours can be seen directly and heterozygous carriers of these mutations can also be identified. Since the test is done mainly automatically, laboratory errors can be widely excluded.
Interpretation of the test results
The test results will be submitted separately for each coat colour, so that the genotype for each corresponding gene locus will be given.
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Price
for the above 6 tests
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£ 84.95 (including VAT)
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