O que significa “Limpar”?
O animal não carrega a mutação. Não desenvolverá a doença e não vai passar adiante.
Cachorro Atrofia progressiva da retina em Schnauzer gigante (PRA-NECAP1)
The DNA test for Progressive Retinal Atrophy in Giant Schnauzers (PRA-NECAP1) is essential for responsible breeding and early diagnosis. PRA-NECAP1 is a hereditary eye disorder causing gradual vision loss and eventual blindness in affected dogs. By identifying carriers and affected individuals through genetic testing, breeders can make informed decisions to reduce the incidence of this debilitating condition. Early detection via the PRA-NECAP1 DNA test helps improve the quality of life for Giant Schnauzers by enabling timely care and management. This test is a vital tool for preserving the health and vision of future generations. Ensure your Giant Schnauzer’s genetic health with the PRA-NECAP1 DNA test today. Protect your dog’s eyesight and support responsible breeding practices.
Abreviatura: PRA-NECAP1
Mutação analisada: NECAP1 c.544G>A
Herança: Autossômico Recessivo
Acrônimo
PRA-NECAP1
Frequência observada
Gravidade clínica
Classificação clínica
Doenças Oftalmológicas
Mutação analisada
NECAP1 c.544G>A
p.(G182R)
p.(G182R)
Modo de herança
Autossômico Recessivo
Resumo do teste:
The DNA test for Progressive Retinal Atrophy (PRA-NECAP1) in Giant Schnauzers identifies a genetic mutation responsible for this inherited eye disease. PRA causes gradual vision loss, eventually leading to blindness. Early detection through genetic testing helps breeders make informed decisions to reduce the incidence of PRA in future generations. This test is a valuable tool for maintaining the health and quality of the Giant Schnauzer breed. Regular screening supports responsible breeding and the well-being of affected dogs.
Disponível no pacote: Basic
Este teste de DNA está incluído a partir do nosso pacote Basic - e também faz parte dos packs Basic, Standard, Advanced, Complete.
Ver pacotes de teste de DNA →Escolha o pack que melhor se adapta à sua estratégia de criação ou saúde dos seus animais.
Understanding Progressive Retinal Atrophy (PRA-NECAP1) in Giant Schnauzers
Progressive Retinal Atrophy (PRA) is a hereditary eye disorder that leads to the degeneration of the retina, ultimately resulting in vision loss. In Giant Schnauzers, the specific form of PRA is associated with mutations in the NECAP1 gene. This condition typically manifests as night blindness in the early stages, gradually progressing to complete vision impairment.
Symptoms of PRA-NECAP1
Signs of PRA-NECAP1 may not be immediately evident, as affected dogs often adapt to their diminishing vision. Common symptoms include difficulty seeing in low light conditions, an increased reliance on smell, and a noticeable change in behavior, such as hesitance in unfamiliar environments. As the disease progresses, affected dogs may exhibit signs of confusion or anxiety, particularly in new or dimly lit settings.
Genetic Basis of PRA-NECAP1
The PRA-NECAP1 form is caused by a mutation in the NECAP1 gene, which plays a critical role in the normal functioning of photoreceptor cells in the retina. This gene is essential for maintaining the health of these cells, and when defective, it leads to their premature death. Understanding the genetic basis of this condition is crucial for breeders and pet owners, as it allows for informed breeding practices aimed at reducing the prevalence of this hereditary disease.
Importância dos testes de DNA
DNA testing for PRA-NECAP1 is an essential tool for breeders and dog owners. By identifying carriers of the mutation, breeders can make informed decisions about mating practices to minimize the risk of producing affected puppies. This proactive approach is vital for maintaining the health of the breed and reducing the incidence of PRA in Giant Schnauzers.
Management and Care for Affected Dogs
While there is currently no cure for PRA-NECAP1, managing the condition involves providing a supportive environment for affected dogs. Owners should ensure their homes are safe and familiar to minimize the risk of accidents due to vision loss. Regular veterinary check-ups can help monitor the progression of the disease and address any emerging health issues. Additionally, providing mental stimulation and maintaining social interactions can enhance the quality of life for dogs with this condition.
Conclusão
Progressive Retinal Atrophy in Giant Schnauzers, particularly the PRA-NECAP1 variant, is a significant concern for breeders and dog owners. Through genetic testing and responsible breeding practices, the impact of this hereditary condition can be mitigated, ensuring healthier future generations. Understanding the symptoms, management strategies, and genetic aspects of PRA-NECAP1 is essential for supporting affected dogs and enhancing their quality of life.
Raça reconhecida para o teste: Atrofia progressiva da retina em Schnauzer gigante (PRA-NECAP1)
- Dachshund
- German Spitz
- Giant Schnauzer
- Keeshond
- Pomeranian
- Pomsky
🧬 Interpretation of genotypes PRA-NECAP1
Genótipo
Status
🟡 N/N
Não portador - sem risco
🟡 N/PRA-NECAP1
Transportadora - Sem Risco
❌ PRA-NECAP1/PRA-NECAP1
Afetados - Em risco
FAQ: entendendo a interpretação
Um “transportador” é sério?
Não. O animal é geralmente saudável, mas pode transmitir a mutação ao seu descendência.
E se um animal for “afetado”?
Ele carrega duas cópias mutadas. Os sinais clínicos são esperados dependendo a doença. Não deveria ser criado.
Por que existem diferenças entre homem/mulher?
Algumas doenças estão ligadas ao sexo, pelo que a sua expressão varia dependendo do sexo do animal.
Prever descendência
N/N (nao-portador)
N/PRA-NECAP1 (Operadora)
PRA-NECAP1/PRA-NECAP1 (Afetado)
Perguntas frequentes sobre testes de DNA
O que este teste de DNA detecta?
This DNA test detects the mutation associated with Progressive Retinal Atrophy In Giant Schnauzer (PRA-NECAP1) in order to identify clear, carrier, or at-risk animals.
Por que testar um animal reprodutor?
Os testes de DNA ajudam os criadores a planejar acasalamentos mais seguros e a reduzir o risco de transmissão da mutação aos descendentes.
Qual é o modo de herança deste teste?
O modo de herança relatado para este teste é Autossômico Recessivo.
Qual mutação é analisada neste teste?
This test analyses the mutation NECAP1 c.544G>A.
Um animal portador é necessariamente afetado?
Não necessariamente. A interpretação depende do padrão de herança e do genótipo resultante.
Referências
Hitti Rebekkah J, Oliver James A C, Schofield Ellen C, Bauer Anina, Kaukonen Maria, Forman Oliver P, Leeb Tosso, Lohi Hannes, Burmeister Louise M, Sargan David, Mellersh Cathryn S. Whole Genome Sequencing of Giant Schnauzer Dogs with Progressive Retinal Atrophy Establishes NECAP1 as a Novel Candidate Gene for Retinal Degeneration. Genes (Basel). 2019 May 21;10(5):385. doi: 10.3390/genes10050385.