Hvað þýðir "Hreinsa"?
Dýrið ber ekki stökkbreytinguna. Það mun ekki þróa sjúkdóminn og mun ekki gefa það áfram.
Hundur Glycogen geymslusjúkdómur Vii í þýskum Quail Dog (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.
Skammstöfun: GSDVII-DW
Grein stökkbreyting: PFKM c.550C>T
Erfðir: Autosomal víkjandi
Skammstöfun
GSDVII-DW
Athuguð tíðni
Klínísk alvarleiki
Klínísk flokkun
Efnaskiptasjúkdómar
Greind stökkbreyting
PFKM c.550C>T
p.(R184W)
p.(R184W)
Erfðamáti
Autosomal víkjandi (Ljúkt)
Próf samantekt:
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.
Fáanlegt úr pakkanum: Basic
Þetta DNA próf er innifalið frá pakkanum okkar Basic — og er líka hluti af pökkunum Basic, Standard, Advanced, Complete.
Skoða DNA prófunarpakka →Veldu pakkann sem passar best við ræktunar- eða heilsustefnu dýranna þinna.
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.
Tegund viðurkennd fyrir prófið: Glycogen geymslusjúkdómur Vii í þýskum Quail Dog (GSDVII-DW)
- Deutscher Wachtelhund
🧬 Interpretation of genotypes GSDVII-DW
Arfgerð
Staða
🟡 N/N
Ekki flutningsaðili - Engin áhætta
🟡 N/GSDVII-DW
Flutningsaðili - Engin áhætta
❌ GSDVII-DW/GSDVII-DW
Fyrir áhrifum - í hættu
Algengar spurningar: skilja túlkunina
Er „flutningsaðili“ alvara?
Nei. Dýrið er almennt heilbrigt en getur sent stökkbreytinguna til þess afkvæmi.
Hvað ef dýr hefur „áhrif“?
Það ber tvö stökkbreytt eintök. Búist er við klínískum einkennum eftir því sjúkdómnum. Það ætti ekki að rækta það.
Af hverju er munur á karli / konu?
Sumir sjúkdómar eru kyntengdir, þannig að tjáning þeirra er mismunandi eftir því kynlíf dýra.
Spáðu í afkvæmi
N/N (ekki-flutningsadili)
N/GSDVII-DW (Flytjandi)
GSDVII-DW/GSDVII-DW (Fyrir áhrifum)
Algengar spurningar um DNA próf
Hvað greinir þetta DNA próf?
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.
Af hverju að prófa ræktunardýr?
DNA próf hjálpar ræktendum að skipuleggja öruggari pörun og draga úr hættu á að stökkbreytingin berist til afkvæma.
Hver er arfleifð þessa prófs?
Erfðastillingin sem tilkynnt er um fyrir þetta próf er Autosomal Recessive.
Hvaða stökkbreyting er greind í þessu prófi?
This test analyses the mutation PFKM c.550C>T.
Er burðardýr endilega fyrir áhrifum?
Ekki endilega. Túlkun fer eftir erfðamynstri og arfgerðinni sem myndast.
Heimildir
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.