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L’ipocatalasia (nota anche come acatalasia, deficit di catalasia, ipocatalasia, acatalasia, malattia di Takahara o CAT) è un disturbo in cui l’organismo non produce una quantità sufficiente di enzima catalasi, che può provocare ulcere della bocca. Una mutazione semi-dominante che causa la malattia è stata osservata in una serie di razze, tra cui il Beagle, il Foxhound americano e il barboncino nano.
Hair length in dogs is a trait largely controlled by the gene “fibroblast growth factor 5” (FGF5). Several different recessive mutations to this gene can result in the growth of longer hair, such as the breed-typical coat of the Afghan Hound, or the Fluffy variant of the French Bulldog. The variants analysed in this test are as follows:
L1: c.284G>T p.(C95F)
L2: c.578C>T p.(A193V)
L3: c.556_571del p.(A186Tfs*71)
L4: c.559_560dup p(R188Afs*75)
L5: c.368-11T>A
Dogs carrying any combination of two of these mutations (being Affected by one mutation, or being a Carrier for two) are expected to have long hair. Dogs that are only Carriers for a single mutation are expected to have short hair.
Note that the specific length of a dog’s coat can also be influenced by other genes in the breed’s genetics.
Centronuclear Myopathy (CNM) is the common name for a range of inherited muscular diseases which are characterised primarily by muscle weakness and muscle wasting. The variant analysed in this test, observed in the Border Collie, is known as ADCNM or as DNM2-CNM. It is caused by a dominant mutation to the gene DNM2.
There are several mutations known in cats to cause gangliosidosis, which is a fatal, progressive neuronopathic lysosomal storage disease. This mutation of gangliosidosis (GM2 Type II) has been found in the β-subunit gene (HEXB), causing a deficiency of β-N-acetylhexosaminidase activity. GM2 is an autosomal recessive disorder.
This variant is for the Burmese cat breed.
Le cause alla base dell’insufficienza surrenalica includono l’iperplasia surrenalica (CAH) intrinseca (congenita) e la distruzione corticosurrenalica autoimmune che porta alla malattia di Addison autoimmune (AAD).
L’iperplasia surrenalica congenita (CAH) è una malattia genetica che colpisce le ghiandole surrenali nei gatti. In questa condizione, le ghiandole surrenali non producono abbastanza di alcuni ormoni, come il cortisolo e l’aldosterone. Questo squilibrio ormonale può portare a una varietà di sintomi e problemi di salute nei gatti colpiti.
Questa mutazione è ereditata dai genitori del gatto in modo autosomico recessivo e può manifestarsi nei gattini fin dalla tenera età. La mutazione genetica specifica qui testata è una mutazione nel gene CYP11B1. Il gene CYP11B1 codifica per l’11β-idrossilasi. Un deficit di 11β-idrossilasi provoca livelli ormonali anormali.
Progressive Retinal Atrophy (PRA) is a gradual progressive degeneration of the photoreceptor cells in the retina, causing gradual vision loss, eventually leading to blindness. It is a non-painful condition that tends to progress slowly over time. There are multiple mutations found to cause PRA. This variant of PRA explains approximately 70% of PRA cases in the Papillon and Phalène and is caused by a recessive mutation to the CNGB1 gene.
Short legs in dogs can be caused by two mutations in the functional fibroblast growth factor 4 (FGF4). This gene is crucial in biological processes, including bone development. The mutations are found on chromosome 12 (FGF4L2) and 18 (FGF4L1).
The mutation analysed in this test is the one found on chromosome 12, which leads to Chondrodystrophy (CDDY). Chondrodystrophy (CDDY) is a semi-dominant trait that is characterised by a short-legged phenotype: Dogs with 2 copies of the mutation are smaller than dogs with only 1 copy, that are already smaller than unaffected dogs.
The same mutation can also lead to degeneration of intervertebral discs, which means that dogs with the mutation are more susceptible to Hansen’s type I intervertebral disc disease (IVDD). IVDD follows a dominant mode of inheritance, meaning that 1 copy of CDDY mutation is already increasing the risk of developing IVDD. This disease has been found in many different breeds, particularly breeds with short legs and/or long backs including Dachshunds, Corgis, and Basset Hounds.
Cerebellar Ataxia is a category of often severe neural disorders that cause a loss of physial coordination. This variant of the disease, known as Spongy Degeneration with Cerebellar Ataxia (SDCA2), occurs in the Belgian Shepherd. It is caused by a recessive mutation to the gene ATP1B2.
Thyroid carcinomas (TCs) are the most common type of endocrine tumours. They can originate from growth of follicular cells of the thyroid gland, which lead to familial or spontaneous thyroid follicular cell carcinomas (FCCs). The carcinomas don’t cause any signs or symptoms early in the disease. As thyroid cancer grows, it may cause swelling in the neck, voice changes and difficulties swallowing. The diagnosis is often before 10 years of age, implying an early onset of disease. FCCs occur in German longhaired pointers and are caused by autosomal recessive inherited gene mutations in the TPO gene. There are two mutations known on chromosome 17, that cause different carcinoma’s: Thyroid follicular cell carcinoma I (C>T) and Thyroid follicular cell carcinoma II (G>A).
Clinical signs include the presence of cervical mass, intermittent cough. In case of a hormone producing mass, alopecia, polyuria, polydipsia and lethargy can be seen.
L’ipotiroidismo congenito con gozzo (CHG), a volte chiamato semplicemente ipotiroidismo, è un deficit della ghiandola tiroidea, che può causare ritardo della crescita e letargia. Questa variante della malattia, che si trova nel Bulldog francese, è causata da una mutazione recessiva del gene TPO. Varianti simili si verificano nel Rat Terrier e nel Toy Fox Terrier, nel Tenterfield Terrier e nello Spanish Water Dog
Per il Rhodesian Ridgeback abbiamo aggiunto due nuovi test al nostro webshop. I due test possono essere ordinati separatamente e fanno anche parte del pacchetto CombiBreed per il Rhodesian Ridgeback (H575).
H931 Emofilia A (deficit di fattore VIII)
La malattia è caratterizzata dalla mancanza o dalla diminuzione dell’attività del fattore VIII. Il fattore VIII è uno dei principali fattori di coagulazione e consiste in una catena pesante e leggera. Inoltre, il fattore è presente nel sangue legato al fattore di von Willebrand (vWF) in un complesso non covalente.
Aritmie ventricolari H932 e morte improvvisa
Aritmie ventricolari sono battiti cardiaci anormali che hanno origine nelle camere cardiache inferiori e fanno battere il cuore troppo velocemente, troppo lentamente o irregolarmente. Una singola variante missenso nel gene QIL1 è stata associata all’aritmia cardiaca. La variante missenso nel gene QIL1 causa cardiomiopatia mitocondriale caratterizzata da anomalie cristae e aritmie cardiache in un modello canino.
Progressive Retinal Atrophy (PRA) is a large group of genetic diseases in which the retina gradually degenerates over time, causing a progressive loss of vision. This early-onset variant of the disease, known as gPRA or gPRA^SPD, is found in the Schapendoes. It is caused by a recessive mutation to the gene CCDC66. A related variant of gPRA is also found in the Portuguese Water Dog.
Coat colour in cats is controlled by a wide range of different genes working together. One of these genes involved is the Tyrosinase (TYR) gene. This gene produces an enzyme that is required for melanin production, which gives skin, hair, and eyes their colour. Mutations in this gene cause various degrees of Type 1 Oculocutaneous Albinism (OCA1), a failure to produce pigment. This can range between the distinctive point colouration of the Burmese and Siamese cat, to complete albinism.
Two known autosomal recessive mutations in TYR have been associated with colourpoints: a pattern of coloration that causes a cat’s body to be pale and their extremities to be dark. It is directly caused by temperature differences in which the darker parts of the cat are colder, while the lighter parts are warmer. The first mutation is designated as “cb” and is responsible for Burmese-type point colouration or Burmese colourpoint. The second mutation is designated as “cs” and is responsible for Siamese-type point colouration or Siamese colourpoint. Cats that carry one “cb” allele and one “cs” allele will display Tonkinese or Mink colourpoints instead, an intermediate color between Siamese and Burmese. The “cb” and “cs” variants are both tested here.
The alleles of the mentioned mutations are equal in dominance. They are recessive to the normal genotype (C) and dominant over the alleles for complete albinism (c and c2).
Polyneuropathy is a neurological disorder characterized by damage to the peripheral nerves. The variant of the disease analysed in this test is found in the Greyhound, and is known as Greyhound Polyneuropathy (GHPN). It is caused by a recessive mutation to the gene NDRG1. A related variant, AMPN, is found in the Alaskan Malamute.
Cheratocongiuntivite congenita secca e dermatosi ittiosiforme (CKCSID). colloquialmente noto come “sindrome dell’occhio secco del pelo riccio”, è un disturbo riscontrato nei cani Cavalier King Charles Spaniel. Ci sono due elementi nel CKCSID: una grave forma di occhio secco (cheratocongiuntivite Sicca, KCS) e un disturbo della pelle. La malattia è causata da una mutazione recessiva del gene FAM83H.
Bilateral Deafness with Vestibular Dysfunction is a neurological disorder occurring in the Doberman Pinscher, which causes loss of hearing and difficulties with balancing and walking. In the Doberman breeding community, the disorder is colloquially known as DINGS2. It is caused by a recessive mutation to the gene MYO7A.
La lussiatura primaria delle lenti (PLL) è uno sviluppo o una maintanza difettosa delle fibre zonulari, o entrambe. La causa della PLL è una mutazione in un sito di riconoscimento del donatore di giunzione nel gene ADAMTS17. La malattia può essere causata da un trauma o da una varietà di condizioni che hanno effetto sull’anatomia oculare.
CombiBreed created packages with relevant and required DNA tests for a breed in consultation with studbooks and breed clubs. Breeders can easily purchase the relevant tests at an affordable rate.
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Epidermolysis Bullosa (EB, also called Ectodermal Dysplasia, Butterfly Disease or Skin Fragility Syndrome) is a severe tissue disorder that results in hair loss and in extremely fragile skin. Euthanasia is usually required for affected dogs. This variant, known as (Recessive) Dystrophic Epidermolysis Bullosa (RDEB), is caused by a recessive mutation to the gene COL7A1. It is found in the Central Asian Shepherd Dog. Related variants are also found in the Golden Retriever and Basset Hound.
Hyperuricosuria and Hyperuricemia (HUU) is the presence of unusually high amounts of the waste product uric acid in the urine and blood, respectively. The disorder may lead to urolithiasis (kidney and bladder stones), which in turn can result in potentially severe urinary tract blockages. In dogs, the disorder is caused by a recessive mutation to the gene SLC2A9.
HUU can occur in any breed, though it is more commonly found in specific breeds for example in Dalmatians, German Hunting Terriers and Majorca Mastiffs. These breed therefore have an increased risk for urolithiasis.