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La ceroidolipofuscinosi neuronale (NCL) è il nome di una vasta gamma di condizioni neurologiche degenerative che causano danni progressivi ai nervi, con conseguente perdita di mobilità e visione e, infine, la morte. La variante analizzata in questo test, la ceroidolipofuscinosi neuronale 10 (NCL10), è causata da una mutazione recessiva del gene CTSD. Si trova nel Bulldog Ameriano.
Neuronal Ceroid Lipofuscinosis (NCL) is the name referring to a wide array of degenerative neurological conditions which cause progressive nerve damage, resulting in a loss of mobility and vision, and ultimately death. This variant, occurring in the Golden Retriever, is the result of a recessive mutation to the CLN5 gene. A similar mutation also occurs in the Australian Cattle Dog and Border Collie.
Neuronal Ceroid Lipofuscinosis (NCL) is the name referring to a wide array of degenerative neurological conditions which cause progressive nerve damage, resulting in a loss of mobility and vision, and ultimately death. This particular variant of the disorder, known as Neuronal Ceroid Lipofuscinosis 8 (NCL8), is caused by a recessive mutation to the gene CLN8. The specific mutation analysed in this test is found in the Saluki. Closely related variants also occur in the English Setter, Australian Shepherd, German Shorthaired Pointer and Alpenländische Dachsbracke.
Gangliosidosis (GM2 Type I) is a fatal, progressive neurodegenerative disease caused by mutations in the HEXA and HEXB genes. These mutations lead to a deficiency of an enzyme that is crucial for breaking down ganglioside GM2 in cells, especially in the brain. As a result, gangliosides build up in nerve cells, causing their dysfunction and death. This buildup leads to worsening neurological damage and severe symptoms over time. Here we test for an autosomal recessive mutation in HEXA in the Japanese Chin dog (also known as Japanese Spaniël).
La ceroidolipofuscinosi neuronale (NCL) è una vasta gamma di condizioni neurologiche degenerative che causano danni progressivi ai nervi, con conseguente perdita di mobilità e visione e, infine, la morte. Questa variante, la ceroidolipofuscinosi neuronale di tipo 8 (NCL8), si verifica nel Australian Shepherd e nel Pointer tedesco a pelo corto. È causata da una mutazione recessiva del gene CLN8. Altre razze portatrici di mutazioni per NCL8 includono il Setter inglese, l’Alpenländische Dachsbracke e il Saluki.
Neuronal Ceroid Lipofuscinosis (NCL) is the name referring to a wide array of degenerative neurological conditions which cause progressive nerve damage, resulting in a loss of mobility and vision, and ultimately death. This variant of the disease, known as Neuronal Ceroid Lipofuscinosis 6 (NCL6), is found in the Australian Shepherd, and is caused by a recessive mutation to the gene CLN6.
Gangliosidosis (GM2 Type II) is a fatal, progressive neurodegenerative disease caused by mutations in the HEXA and HEXB genes. These mutations lead to a deficiency of an enzyme that is crucial for breaking down ganglioside GM2 in cells, especially in the brain. As a result, gangliosides build up in nerve cells, causing their dysfunction. This buildup leads to worsening neurological damage and severe symptoms over time. Here we test for an autosomal recessive mutation in HEXB in all cat breeds.
La ceroidolipofuscinosi neuronale (NCL) è il nome che si riferisce a una vasta gamma di condizioni neurologiche degenerative che causano danni progressivi ai nervi, con conseguente perdita di mobilità e visione e, infine, la morte. Questa variante, che si verifica nell’Australian Cattle Dog, è nota come ceroidolipofuscinosi neuronale 12 (NCL12) ed è causata da una mutazione recessiva del gene ATP13A2. Una variante correlata si verifica anche nel Tibetan Terrier.
La lipofuscinosi ceroide neuronale (NCL) è un’ampia gamma di condizioni neurologiche degenerative che causano danni progressivi ai nervi, con conseguente perdita di mobilità e vista e, infine, la morte.
Questa specifica variante della malattia analizzata in questo test è variamente indicata come lipofuscinosi ceroide neuronale 4A (NCL 4A), abiotrofia corticale cerebellare, degenerazione corticale cerebellare, atassia cerebellare o mucopolisaccaridosi (MPS). Si verifica nell’American Staffordshire Terrier ed è causato da una mutazione recessiva del gene ARSG.
La ceroidolipofuscinosi neuronale (NCL) è il nome che si riferisce a una vasta gamma di condizioni neurologiche degenerative che causano danni progressivi ai nervi, con conseguente perdita di mobilità e visione e, infine, la morte. Questa variante, nota come ceroidolipofuscinosi neuronale 7 (NCL 7), è causata da una mutazione recessiva del gene MFSD8 e si verifica nel Chinese Crested Dog e nel Chihuahua.
Neuronal Ceroid Lipofuscinosis (NCL) is the name for a wide array of degenerative neurological conditions which cause progressive nerve damage, resulting in a loss of mobility and vision, and ultimately death. The variant analysed in this test, Neuronal Ceroid Lipofuscinosis 5 (NCL5 or CLN5), is caused by a recessive mutation to the gene CLN5. This variant is found in the Australian Cattle Dog and the Border Collie. A related variant is found in the Golden Retriever.
Neuronal Ceroid Lipofuscinosis (NCL) is a wide array of degenerative neurological conditions which cause progressive nerve damage, resulting in a loss of mobility and vision, and ultimately death. This variant, Neuronal Ceroid Lipofuscinosis type 8 (NCL8), is caused by a recessive mutation to the gene CLN8, and occurs in the English Setter. Other variants of NCL8 are found in the Australian Shepherd, German Shorthaired Pointer, Alpenländische Dachsbracke and Saluki.
Nowadays, scientific articles do not often publish mutations that are also present in other breeds. Therefore, mutations that are described and validated in one breed can also be found in other breeds. The occurrence of these mutations in other breeds is determined by laboratories that carry out the tests. It is difficult to estimate how high the reliability is for a certain test for a particular breed.
The above basis applies in general to hereditary diseases. Hereditary diseases are passed on from one generation to another through defective genes. Nevertheless, inheritance of a disease remains a biological process, and therefore exceptions are still possible. The specific information for a test gives more information about possible deviations.
Our DNA tests offer you insight into the composition of your animal’s DNA. If possible, we will try to inform you of the optimal choice of tests for your personal situation. You should be aware that our laboratories are not responsible for the breeding decisions that you take. This is due to the complexity of the variation in tests and breeds. We recommend that, for advice concerning breeding decisions, you contact your international or national breed association or vet.
It is possible that a low percentage of results may be missing if a combination package is requested this can be caused due to technical reasons. We consider a combination package ‘fully reported’ if only one or two of the markers within a combination package are missing after retesting. No refund will be provided for missing tests within a combination package.
Our combination packages will never be 100% complete due to the large number of publications in the scientific literature. We update the packages twice a year, whereby we use the following criteria: a) changes to the breeds in which a DNA test has been validated, b) the type of disease and c) technical criteria.
In general, our tests are based on scientific publications. In these articles, a disease or condition is described with detailed information about the symptoms and background of the DNA test. The test does not guarantee that the animal still has the possibility to develop symptoms. The symptoms can be caused due to unknown genetic mutations. However, after testing positive for a disease an animal will not always develop symptoms. We therefore recommend that you contact your local or international breed association, Management Board or vet for breeding or veterinary advice.
A mutation in the KIT-gene is associated with a white spotting pattern in German Shepherd Dogs, this pattern is also called Panda White Spotting. The mutation is very recent, it appeared spontaneously in a female born in 2000. The gene for white-spotting is known as the S-locus (MITF-Gene), however this mutation in the German Shepherd dogs is in a different gene then the mutation causing white spotting in other dog breeds. The mutation causes white markings on the face, limbs, belly, neck, and tip of the tail, with the white being concentrated toward the front of the dog, similar to the irish spotting pattern. The amount of white can vary from dog to dog. The mutation that causes the Panda White pattern in German Shepherd dogs is in homozygous state (two copies of the mutation) considered embryonic lethal as no live dogs with the pattern and with two copies of the mutation have been observed. This means that pups that are homozygous for the Panda mutation do not develop in the uterus and are reabsorbed very early in the development process. Dogs that are heterozygous (one copy of the mutation) do not have any health defects associated with the Panda pattern. The Coat Colour Panda White Spotting test (H354) tests for the genetic status of the KIT-gene. This gene has two variants (alleles), P and N. The allele P is dominant. One copy of the P allele results in dogs with the Panda white pattern. Two copies of the P allele result in early embryonic death. The allele N does have no effect on the coat colour.
The Coat Colour Panda White Spotting test encloses the following results.
|
KIT-gene |
Coat Colour |
|---|---|
|
N/N |
No Panda White spotting unless modified by other colour modifying factors, only allele N will be passed on to an offspring |
|
N/P |
Panda White spotting, either allele N or P will be passed on to an offspring |
Complexity of genetic material
The body of an organism consists of a large number of cells, which contain a full and complete set of genetic material. Genetic information is present in the nucleus of a cell. The genetic information is stored in chromosomes, which are translated by the body in useful data (proteins). This happens constantly in all cells. The general code is called DNA.
Chromosomes exist of long DNA-strains which are wound around each other very tightly. When a chromosome is studied in detail, it is possible to look at the composition of DNA in the form of A, T, G, or C. These A, T, G and C are the building blocks from which the DNA is constructed. Sometimes stretches of repeats are present (e.g. CACACA) – such stretches are indicated as microsatellites (also known as STRs). Other variation such as G/A or C/G is indicated as Single Nucleotide Polymorphism (SNP). The order and composition of DNA are the basis for all kinds of applications.
For the typing of the composition of genetic characteristics it is possible to use hairs, feathers – to be drawn with roots –, blood, milk, tissue etcetera. The usability of sample material depends on the test which is carried out. The use of ‘fresh’ material provides the best result.
Techniques
Genetic variation can be visualized with a number of different techniques. Frequently a technique is used, where DNA is multiplied (PCR). DNA can be made visible through three steps:
The final result of these steps results generally in the detection of the variation in STRs or SNPs. By examining a number of STRs or SNPs, a genetic bar code is generated. This bar code can be used for a number of different tests, among which are lineage, identity of samples, etcetera. In a number of examples these applications are described below.
The Extension gene (MCR1 gene) controls the production of black and red pigment. In cats, shades of red color are determined by the dominant Orange gene (O-locus) located on the X chromosome. The genetic background of the O-Locus is still unknown. The Extension gene is also known as E-locus. The Coat Colour E locus, extension test (K639) tests for the genetic status of the E-locus. The E-locus has two variants (alleles). It is presumed that (almost) all cats are fixed for the dominant allele E, they have two copies of the dominant allele E and based on this gene alone could produce both red and black pigment. The recessive allele e results in kittens that are born with a black/brown tabby pattern (blue/apricot in dilute cats). As the kittens mature, the black/blue pigment is replaced by yellow resulting in the golden coat coloration seen in adult cats. Originally it was named X Colour, now it is called Amber. The recessive allele can be present in the Norwegian Forest cat and traces back to a single female ancestor from Norway born in 1981. Cats with two copies of the allele e only have the Amber Coat Colour when the dominant O allele at the O-locus is not present.
The Coat Colour E Locus, extension test encloses the following results, in this scheme the results of the Coat Colour E Locus, extension test are shown in combination with the possible results for the O-locus. For the O-locus no DNA test is available:
|
E-locus |
O-locus (no DNA test available) |
Coat Colour |
|---|---|---|
|
E/E |
O/O, O/o or o/o (female) |
Not Amber |
|
E/E |
O/- or o/- (male) |
Not Amber |
|
E/e |
O/O, O/o or o/o (female) |
Not Amber |
|
E/e |
O/- or o/- (male) |
Not Amber |
|
e/e |
o/o (female) or o/- (male) |
Amber |
|
e/e |
O/O (female) or O/- (male) |
Red |
|
e/e |
O/o (female) |
Amber/red tortoiseshell |
Dominant White and White Spotting are controlled by the KIT-gene. Dominant white is also described as the W-locus and White Spotting as the S-locus. The gene/genes controlling the pattern of White Spotting is still unknown. Additionally, not all white spots or patterns result from the KIT-gene as other genes can also have mutations that result in depigmentation phenotypes.
The KIT-gene has three variants (alleles). The DW allele is dominant over the alleles Ws and N; allele Ws is dominant over allele N. The dominant allele DW results in a white coat colour. The allele Ws in white spotting and the allele N has no effect on the coat colour.
Dominant White is distinct from albinism (C-locus) which results from a mutation in theTYR (tyrosinase) gene that has no known impact on hearing. One or two copies of the DW allele will result in a white cat with varying degrees of hearing impairment.
The Dominant White & White Spotting test encloses the following results:
| Dominant White & White Spotting (W- en S-locus) | Coat Colour |
|---|---|
| N/N | Not white and no white spotting |
| N/DW | White |
| DW/DW | White |
| N/Ws | Cat has white spotting |
| DW/Ws | White |
| Ws/Ws | Cat has white spotting |
La mancanza di melanociti, causata da mutazioni nel proto-oncogene KIT, è una delle ragioni principali per la colorazione del mantello bianco in numerose razze animali domestiche. Originaria della Finlandia, una recente mutazione recessiva nel gene KIT porta a gatti con macchie bianche “glassate” note come Salmiak o Liquirizia salata.
The Agouti gene (ASIP gene) is responsible for the production of a protein that regulates the distribution of black pigment (eumelanin) within the hair shaft. This gene is also known as the A-locus and determines whether an animal expresses an agouti appearance, and if so what type, by controlling the distribution of pigment in individual hairs. The agouti pattern can be seen in both black-based and red-based colours. The coat colour is further complicated by the interaction with the K-locus and the E-locus. The agouti pattern is only expressed if on the K-locus no copy of the KB allele is present in combination with at least one copy of the E or Em allele on the E-locus. The Coat Colour A-Locus test (H820) tests for the genetic status of the A-locus. The A-locus has four variants (alleles). The most dominant allele is Ay, followed by aw, then at, then a. The dominant Ay allele produces a sable or fawn coat colour. The allele aw produces a colour known as wild sable or wild type. With this colouration, the hairs switch pigmentation from black to reddish or fawn. This colour is sometimes seen in German Shepherds and other shepherd breeds. The allele at results in tan points (tan markings on a dark dog) and produces black-and-tan and tricolour dogs. A tricolour dog is black-and-tan plus white. The allele a is also called the recessive black allele and results in a solid black/brown/blue/lilac or bicolour dog. Some breeds are fixed for only one variant. The Norwegian Elkhound is fixed for the aw allele and the Beagle is fixed for the at allele. In many breeds 2 or 3 alleles are present.
The Coat Colour A-Locus test encloses the following results.
| A-Locus | Coat Colour |
|---|---|
| Ay/Ay | Fawn/Sable, only allele Ay will be passed on to an offspring |
| Ay/aw | Fawn/Sable, either allele Ay or aw will be passed on to anan offspring |
| Ay/at | Fawn/Sable, either allele Ay or at will be passed on to an offspring |
| Ay/a | Fawn/Sable, either allele Ay or a will be passed on to an offspring |
| aw/aw | Wild sable/Wild type, it can only pass on allele aw will be passed on to an offspring |
| aw/at | Wild sable/Wild type, either allele aw or at will be passed on to an offspring |
| aw/a | Wild sable/Wild type, either allele aw or a will be passed on to an offspring |
| at/at | Tan Points/Black-and-tan/Tricolour, it can only pass on allele at will be passed on to an offspring |
| at/a | Tan Points/Black-and-tan/Tricolour, either allele at or a will be passed on to an offspring |
| a/a | Solid Black(Brown/Blue/Lilac)/Bicolour, it can only pass on allele a will be passed on to an offspring |
The Silver gene (SILV gene), also called premelanosome protein (PMEL17 gene) is responsible for Merle. This gene is also known as M-Locus. Merle only dilutes eumelanin (black) pigment; dogs with two copies of the allele e (homozygous e/e) at E-Locus have no black pigment, thus do not express merle. Merle is an incompletely dominant coat color pattern characterized by irregularly shaped patches of diluted pigment and solid color. Blue and partially blue eyes are typically seen with merle, and merle dogs often have a wide range of auditory and ophthalmologic defects. Breeds with merle coat pattern are Shetland Sheepdog, Collie, Border Collie, Australian Shepherd, Cardigan Welsh Corgi, Catahoula Leopard Dog, Dachshund, Great Dane, Bergamasco Sheepdog and Pyrenean Shepherd. The Coat Colour Merle test (H630) tests for the genetic status of the M-locus. The M-locus has three variants (alleles): M (merle, SINE with longer poly-A tail), Mc (cryptic merle, SINE with shorter poly-A tail) and N (non-merle, no SINE insertion. Dogs with cryptic merle (also called phantom or ghost merle), typically display little to no merling and some may be misclassified as non-merles.
The Coat Colour Merle test encloses the following results.
|
M-Locus |
Coat Colour |
|---|---|
|
M/M |
Merle coat colour, two copies of merle are present (double merle). Dog may exhibit auditory and ophthalmologic defects |
|
M/Mc |
Merle coat colour, One copy of merle and one copy of cryptic merle are present. Dog may exhibit auditory and ophthalmologic defects |
|
M/N |
Merle coat colour, one copy of merle is present. Dog may exhibit auditory and ophthalmologic defects |
|
Mc/Mc |
Cryptic-merle, two copies of cryptic merle are present. The dog is genetically healthy with regards to the merle factor |
|
Mc/N |
Cryptic-merle, one copy of cryptic merle is present, the dog is genetically healthy with regards to the merle factor |
|
N/N |
Non-merle, no copies of merle or cryptic merle are present, the dog is genetically healthy with regards to the merle factor |
