O que significa “Limpar”?
O animal não carrega a mutação. Não desenvolverá a doença e não vai passar adiante.
Cachorro Má absorção intestinal de cobalamina na variante 1 do pastor australiano (IGS-AS1)
The Intestinal Cobalamin Malabsorption (IGS) DNA test in Australian Shepherd Variant 1 is essential for early detection of this inherited disorder. IGS affects vitamin B12 absorption, leading to serious health issues in affected dogs. By using this genetic test, breeders and owners can identify carriers and prevent passing the mutation to future generations. Early diagnosis through DNA testing ensures timely treatment and improved quality of life for Australian Shepherds. This test is a vital tool for responsible breeding and maintaining the breed’s overall health. Protect your Australian Shepherd by screening for IGS Variant 1 today. Accurate DNA testing supports healthier, happier dogs.
Abreviatura: IGS-AS1
Mutação analisada: CUBN c.8392del
Herança: Autossômico Recessivo
Acrônimo
IGS-AS1
Frequência observada
Gravidade clínica
Classificação clínica
Doenças Metabólicas
Mutação analisada
CUBN c.8392del
p.(Q2798Rfs*3)
p.(Q2798Rfs*3)
Modo de herança
Autossômico Recessivo (Completo)
Nome alternativo:
Imerslund-Gräsbeck Syndrome
Resumo do teste:
The DNA test for Intestinal Cobalamin Malabsorption (IGS) Variant 1 in Australian Shepherds helps identify carriers and affected dogs. IGS is a genetic disorder causing poor absorption of vitamin B12, leading to serious health issues. Early detection through this test allows breeders to make informed decisions and reduce the risk of passing the condition to offspring. Affected dogs require lifelong management and supplementation. This test is essential for maintaining the health and well-being of Australian Shepherds.
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 Intestinal Cobalamin Malabsorption in Australian Shepherds
Intestinal Cobalamin Malabsorption (ICM) is a genetic condition observed in Australian Shepherds, specifically associated with the IGS (Intestinal Cobalamin Malabsorption) variant 1. This hereditary disorder leads to the inability of the intestines to properly absorb cobalamin, also known as vitamin B12, which is essential for various bodily functions, including red blood cell production and neurological health.
Genetic Basis of ICM
The IGS variant 1 is linked to mutations in specific genes that are crucial for the absorption of cobalamin. These genetic alterations affect the transport mechanisms within the intestines, resulting in insufficient levels of vitamin B12 in the bloodstream. Affected dogs often experience symptoms related to vitamin deficiency, which can significantly impact their overall health and well-being.
Symptoms of Intestinal Cobalamin Malabsorption
Dogs diagnosed with ICM may exhibit a variety of clinical symptoms. Common signs include poor growth, weight loss, lethargy, and gastrointestinal issues such as diarrhea or vomiting. As the condition progresses, it can lead to more severe health problems, including anemia and neurological disorders due to the critical role of cobalamin in maintaining cellular function and health.
Diagnosis of ICM
To confirm a diagnosis of Intestinal Cobalamin Malabsorption, veterinarians often rely on a combination of clinical signs and diagnostic testing, including blood tests to measure cobalamin levels. However, DNA testing is a definitive method to identify the presence of the genetic mutation associated with the condition. This allows for early detection and management of the disease, enhancing the quality of life for affected dogs.
Opções de manejo e tratamento
Management of Intestinal Cobalamin Malabsorption primarily involves cobalamin supplementation to restore adequate vitamin levels in the body. This can be achieved through regular injections or oral supplements, depending on the severity of the deficiency and the dog's individual needs. In addition to vitamin supplementation, a well-balanced diet and regular veterinary check-ups are crucial for monitoring overall health and addressing any additional complications that may arise from the condition.
Conclusão
Intestinal Cobalamin Malabsorption in Australian Shepherds is a significant genetic condition that can lead to serious health issues if not properly managed. Early diagnosis through DNA testing and subsequent treatment with cobalamin supplementation can help affected dogs lead healthier and more fulfilling lives. Responsible breeding practices and genetic testing can also play a vital role in reducing the incidence of this condition in future generations.
Raça reconhecida para o teste: Má absorção intestinal de cobalamina na variante 1 do pastor australiano (IGS-AS1)
- Aussiedoodle
- Australian Koolie
- Australian Shepherd
- Bearded Collie
- Border Collie
- Bordoodle
- Farm Collie
- Koolie
- Miniature American Shepherd
- Miniature Australian Shepherd Dog
- Old Farm Collie
- Rough Collie
- Scottish Collie
- Scottish Rough Collie
- Scottish Smooth Collie
- Smooth Collie
- Toy Australian Shepherd Dog
- Working Kelpie
🧬 Interpretation of genotypes IGS-AS1
Genótipo
Status
🟡 N/N
Não portador - sem risco
🟡 N/IGS-AS1
Transportadora - Sem Risco
❌ IGS-AS1/IGS-AS1
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/IGS-AS1 (Operadora)
IGS-AS1/IGS-AS1 (Afetado)
Perguntas frequentes sobre testes de DNA
O que este teste de DNA detecta?
This DNA test detects the mutation associated with Intestinal Cobalamin Malabsorption In Australian Shepherd Variant 1 (IGS-AS1) 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 CUBN c.8392del.
Um animal portador é necessariamente afetado?
Não necessariamente. A interpretação depende do padrão de herança e do genótipo resultante.
Referências
OwczarekLipska Marta, Jagannathan Vidhya, Drögemüller Cord, Lutz Sabina, Glanemann Barbara, Leeb Tosso, Kook Peter H. A frameshift mutation in the cubilin gene (CUBN) in Border Collies with Imerslund-Gräsbeck syndrome (selective cobalamin malabsorption). PLoS One. 2013 Apr 16;8(4):e61144. doi: 10.1371/journal.pone.0061144. Print 2013.