Što znači "Očistiti"?
Životinja ne nosi mutaciju. Neće razviti bolest i neće ga prenijeti.
Pas Bolest skladištenja glikogena Vii kod njemačkih pasa prepelica (GSDVII-DW)
Glycogen Storage Disease VII (GSDVII) is a genetic condition that affects the Deutscher Wachtelhund, leading to muscle weakness and exercise intolerance. A DNA test for GSDVII is crucial for responsible breeding, helping to identify carriers and prevent the disease from being passed on to future generations. By testing your Deutscher Wachtelhund, you can ensure a healthier lineage and contribute to the overall well-being of the breed. Early detection through a simple saliva or blood test enables proactive management of the condition. Understanding GSDVII is essential for breeders and dog owners alike. Protect your pet's health by choosing DNA testing today. Invest in your dog's future and promote genetic health within the Deutscher Wachtelhund community.
Kratica: GSDVII-DW
Analizirana mutacija: PFKM c.550C>T
nasljeđivanje: Autosomno recesivno
Akronim
GSDVII-DW
Opažena učestalost
Klinička ozbiljnost
Klinička klasifikacija
Metaboličke bolesti
Analizirana mutacija
PFKM c.550C>T
p.(R184W)
p.(R184W)
Način nasljeđivanja
Autosomno recesivno (Dovršeno)
Sažetak testa:
Glycogen Storage Disease VII (GSDVII) is a hereditary condition affecting the Deutscher Wachtelhund, a breed known for its hunting prowess. This genetic disorder impairs the dog's ability to metabolize glycogen, leading to muscle weakness and exercise intolerance. A DNA test can identify carriers and affected individuals, helping breeders make informed decisions to minimize the disease's prevalence. Early diagnosis through genetic testing can significantly improve the quality of life for affected dogs. Responsible breeding practices are essential to ensure the health and well-being of future generations of this beloved breed.
Dostupno iz paketa: Basic
Ovaj DNK test je uključen počevši od našeg paketa Basic — i također je dio paketa Basic, Standard, Advanced, Complete.
Pogledajte pakete DNK testova →Odaberite pakiranje koje najbolje odgovara vašoj uzgojnoj ili zdravstvenoj strategiji vaših životinja.
Understanding DNA Testing for Glycogen Storage Disease VII in Deutscher Wachtelhund
Glycogen Storage Disease Type VII (GSDVII), also known as Tarui's disease, is a rare inherited metabolic disorder that affects the muscle cells of dogs, including the Deutscher Wachtelhund. This condition results from a deficiency in the enzyme phosphofructokinase (PFK), which plays a crucial role in the glycolytic pathway responsible for energy production during muscle activity.
Pathophysiology of GSDVII in Deutscher Wachtelhund
In affected dogs, the lack of functional PFK enzyme impairs the breakdown of glucose within muscle cells, leading to an abnormal accumulation of glycogen and other metabolic byproducts. This disruption causes muscle weakness, exercise intolerance, and potential muscle damage, especially during periods of exertion. The energy deficiency within muscle tissues can lead to episodes of weakness or collapse following physical activity.
Genetic Basis of GSDVII
GSDVII in Deutscher Wachtelhund is inherited in an autosomal recessive manner, meaning that an affected dog must inherit two copies of the mutated gene—one from each parent—to develop the disease. Carriers, with only one copy of the mutation, typically do not display clinical signs but can pass the mutation to their offspring. Identifying carriers and affected individuals is essential for responsible breeding and disease management.
Importance of DNA Testing for GSDVII
DNA testing provides a definitive method for determining the presence or absence of the genetic mutation associated with GSDVII. This testing allows breeders and veterinarians to make informed decisions to reduce the incidence of affected puppies. Early diagnosis through genetic screening can also help manage the condition by adjusting exercise routines and providing supportive care to affected dogs, improving their quality of life.
Pasmina priznata za test: Bolest skladištenja glikogena Vii kod njemačkih pasa prepelica (GSDVII-DW)
- Deutscher Wachtelhund
🧬 Interpretation of genotypes GSDVII-DW
Genotip
Status
🟡 N/N
Nije prijevoznik - nema rizika
🟡 N/GSDVII-DW
Prijevoznik - Bez rizika
❌ GSDVII-DW/GSDVII-DW
Pogođeni - U opasnosti
FAQ: razumijevanje tumačenja
Je li "Carrier" ozbiljan?
Ne. Životinja je općenito zdrava, ali može prenijeti mutaciju na svoju potomstvo.
Što ako je životinja "pogođena"?
Nosi dvije mutirane kopije. Klinički znakovi se očekuju ovisno o bolest. Ne treba ga uzgajati.
Zašto postoje razlike između muškaraca i žena?
Neke bolesti su spolno povezane, pa njihov izraz varira ovisno o spol životinje.
Predvidi Potomstvo
N/N (Non-carrier)
N/GSDVII-DW (Prijevoznik)
GSDVII-DW/GSDVII-DW (Pogođeno)
Česta pitanja o DNK testu
Što otkriva ovaj DNK test?
This DNA test detects the mutation associated with Glycogen Storage Disease VII In Deutscher Wachtelhund (GSDVII) in order to identify clear, carrier, or at-risk animals.
Zašto testirati rasplodne životinje?
DNK testiranje pomaže uzgajivačima u planiranju sigurnijih parenja i smanjenju rizika od prijenosa mutacije na potomstvo.
Koji je način nasljeđivanja ovog testa?
Način nasljeđivanja prijavljen za ovaj test je autosomno recesivan.
Koja se mutacija analizira u ovom testu?
This test analyses the mutation PFKM c.550C>T.
Je li životinja nositelj nužno pogođena?
Nije nužno. Tumačenje ovisi o obrascu nasljeđivanja i rezultirajućem genotipu.
Reference
Inal Gultekin G, Raj K, Lehman S, Hillström A, Giger U. Missense mutation in PFKM associated with muscle-type phosphofructokinase deficiency in the Wachtelhund dog. Mol Cell Probes. 2012 Dec;26(6):243-7. doi: 10.1016/j.mcp.2012.02.004. Epub 2012 Mar 16.