Hvað þýðir "Hreinsa"?
Dýrið ber ekki stökkbreytinguna. Það mun ekki þróa sjúkdóminn og mun ekki gefa það áfram.
Hundur Dystrophic Epidermolysis Bullosa í miðasískum fjárhundi (DEB-CAS)
Dystrophic Epidermolysis Bullosa (DEB) is a serious genetic skin disorder affecting Central Asian Shepherd dogs, causing fragile skin and painful blistering. DNA testing for DEB in Central Asian Shepherds is essential for responsible breeders to identify carriers and prevent passing this debilitating condition to puppies. Early genetic screening helps maintain the health and quality of the breed by reducing the risk of affected offspring. By using a reliable DEB DNA test, breeders can make informed mating decisions and promote the welfare of Central Asian Shepherd dogs. Protect your dog’s future with accurate DEB genetic testing today. Ensure your Central Asian Shepherd’s health with proactive DNA screening for Dystrophic Epidermolysis Bullosa.
Skammstöfun: DEB-CAS
Grein stökkbreyting: COL7A1 c.4579C>T
Erfðir: Autosomal víkjandi
Skammstöfun
DEB-CAS
Athuguð tíðni
Klínísk alvarleiki
Klínísk flokkun
Húðsjúkdómar
Greind stökkbreyting
COL7A1 c.4579C>T
p.(R1527*)
p.(R1527*)
Erfðamáti
Autosomal víkjandi
Próf samantekt:
Dystrophic Epidermolysis Bullosa (DEB) is a genetic skin disorder affecting Central Asian Shepherd dogs, causing fragile skin that blisters and scars easily. A DNA test can identify carriers and affected dogs by detecting mutations in the COL7A1 gene responsible for DEB. Early genetic screening helps breeders make informed decisions to reduce the incidence of this painful condition. By using DNA testing, the health and welfare of future generations of Central Asian Shepherds can be significantly improved. Responsible breeding practices are essential to managing DEB in this 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 Dystrophic Epidermolysis Bullosa (DEB) in Dogs
Dystrophic Epidermolysis Bullosa (DEB) is a genetic skin disorder that affects the integrity of the skin in dogs, particularly noted in certain breeds like the Central Asian Shepherd. This condition is characterized by extreme fragility of the skin and mucous membranes, leading to blister formation and erosions following minimal trauma. DEB results from mutations in the genes responsible for producing collagen, a protein that provides structure and strength to the skin.
Clinical Features of DEB
Dogs affected by DEB typically exhibit symptoms such as blistering, ulceration, and scarring on their skin. These lesions can be painful and may lead to secondary infections. The condition can significantly impact the quality of life for affected dogs, as the skin's ability to heal is compromised. Additionally, the severity of DEB can vary, with some dogs experiencing mild symptoms while others may have more severe manifestations requiring ongoing management.
Genetic Basis of DEB
The underlying cause of Dystrophic Epidermolysis Bullosa is primarily linked to mutations in the COL7A1 gene, which encodes type VII collagen. This collagen is crucial for anchoring the outer layer of the skin to the underlying tissue, and deficiencies can lead to the symptoms associated with DEB. The genetic nature of this condition means it can be inherited, making awareness of the genetic background in breeding practices essential to reduce the incidence of DEB in future generations.
Management and Care for Affected Dogs
While there is currently no cure for Dystrophic Epidermolysis Bullosa, management strategies focus on minimizing discomfort and preventing complications. This may include providing a soft, padded environment to reduce friction and trauma to the skin, as well as regular veterinary check-ups to monitor skin condition and address any infections. Nutritional support and proper wound care are also vital components of managing affected dogs to improve their overall well-being.
Importance of DNA Testing
DNA testing plays a crucial role in identifying carriers of the gene mutation responsible for DEB. By conducting genetic tests, breeders can make informed decisions to avoid producing affected puppies and thus contribute to reducing the prevalence of this condition in the breed. Additionally, early identification of affected individuals allows for timely intervention and management strategies to enhance their quality of life.
Tegund viðurkennd fyrir prófið: Dystrophic Epidermolysis Bullosa í miðasískum fjárhundi (DEB-CAS)
- Central Asian Shepherd Dog
🧬 Interpretation of genotypes DEB-CAS
Arfgerð
Staða
🟡 N/N
Ekki flutningsaðili - Engin áhætta
🟡 N/DEB-CAS
Flutningsaðili - Engin áhætta
❌ DEB-CAS/DEB-CAS
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/DEB-CAS (Flytjandi)
DEB-CAS/DEB-CAS (Fyrir áhrifum)
Algengar spurningar um DNA próf
Hvað greinir þetta DNA próf?
This DNA test detects the mutation associated with Dystrophic Epidermolysis Bullosa In Central Asian Shepherd (DEB-CAS) 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 COL7A1 c.4579C>T.
Er burðardýr endilega fyrir áhrifum?
Ekki endilega. Túlkun fer eftir erfðamynstri og arfgerðinni sem myndast.
Heimildir
Niskanen Julia, Dillard Kati, Arumilli Meharji, Salmela Elina, Anttila Marjukka, Lohi Hannes, Hytönen Marjo K. Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs. PLoS One. 2017 May 11;12(5):e0177527. doi: 10.1371/journal.pone.0177527. eCollection 2017.