「清晰」係咩意思？
呢隻動物唔會攜帶呢個突變。佢唔會發病 同埋唔會傳落去。
狗 α - 甘露糖苷酸病（ AMD ）
Alpha-Mannosidosis (AMD) in dogs is a rare genetic disorder caused by a deficiency of the enzyme alpha-mannosidase. Early DNA testing for AMD helps breeders identify carriers and prevent the spread of this inherited condition. Accurate DNA tests enable responsible breeding decisions, reducing the risk of affected puppies. Symptoms of AMD include developmental delays, muscle weakness, and neurological issues. By utilizing advanced genetic screening, dog owners can ensure healthier litters and improve overall breed health. Regular DNA testing for Alpha-Mannosidosis is essential for maintaining the well-being of susceptible dog breeds. Protect your dog’s future with reliable AMD DNA testing today.
縮寫： AMD
分析咗嘅突變： MAN2B1 c.311A>G
遺產 ： 常染色體隱性
首字母縮寫
AMD
觀察到嘅頻率
臨床嚴重性
臨床分類
代謝疾病
分析咗嘅突變
MAN2B1 c.311A>G
p.(D104G)
p.(D104G)
繼承方式
常染色體隱性 （完成）
測試摘要：
Alpha-Mannosidosis (AMD) is a rare genetic disorder in dogs caused by a deficiency of the enzyme alpha-mannosidase. This enzyme deficiency leads to the accumulation of complex sugars in cells, causing progressive neurological and physical symptoms. DNA testing for AMD helps identify carriers and affected dogs, enabling responsible breeding decisions. Early diagnosis through genetic screening can improve management and care for affected dogs. This test is essential for breeders aiming to reduce the incidence of AMD in their lines.
喺包裝入面有得買： Basic
呢個 DNA 測試由我哋嘅包裝開始包括喺入面 Basic — 而且亦都係包嘅一部分 Basic, Standard, Advanced, Complete。
查看 DNA 檢測包 →揀最適合你嘅動物嘅繁殖或者健康策略嘅群體。
Understanding Alpha-Mannosidosis in Dogs
Alpha-Mannosidosis (AMD) is a rare genetic disorder that affects the metabolism of certain sugars in the body. It is caused by a deficiency of the enzyme alpha-mannosidase, which is crucial for breaking down complex carbohydrates. When this enzyme is lacking or dysfunctional, toxic substances can accumulate in the cells, leading to a range of health issues. This condition can impact various organ systems and is characterized by a variety of symptoms that can significantly affect a dog's quality of life.
臨床徵兆同症狀
Dogs with Alpha-Mannosidosis may exhibit a range of clinical signs, which can vary in severity. Common symptoms include developmental delays, neurological problems, and skeletal abnormalities. Affected dogs may experience difficulty with movement, including weakness in the limbs and impaired coordination. Additionally, they may show signs of cognitive deficits, such as disorientation or changes in behavior. Other symptoms can include enlarged organs, particularly the liver and spleen, and recurrent infections due to a compromised immune system.
Diagnosis of Alpha-Mannosidosis
The diagnosis of Alpha-Mannosidosis typically involves a combination of clinical evaluation and laboratory testing. Veterinarians may suspect AMD based on the presence of characteristic symptoms and the dog's medical history. Confirmatory diagnosis is achieved through specialized testing, including biochemical assays to measure enzyme activity and genetic testing to identify mutations in the gene responsible for the condition. DNA testing is a crucial tool in confirming the presence of the disorder and understanding its genetic basis.
管理同治療選項
Currently, there is no cure for Alpha-Mannosidosis, and treatment focuses primarily on managing symptoms and improving the quality of life for affected dogs. Supportive care may include physical therapy to help maintain mobility, nutritional support to address any dietary needs, and medication to manage secondary infections or complications. In some cases, enzyme replacement therapy is being explored as a potential treatment option, although it is not widely available for veterinary use yet. Regular veterinary check-ups are essential to monitor the dog's health and adjust the management plan as needed.
遺傳檢測嘅重要性
Genetic testing for Alpha-Mannosidosis plays a vital role in breeding programs and can help prevent the spread of this condition within canine populations. By identifying carriers of the gene mutation, breeders can make informed decisions to reduce the incidence of AMD in future generations. This proactive approach not only protects the health of individual dogs but also contributes to the overall welfare of the breed.
結論
Alpha-Mannosidosis is a serious genetic condition that poses significant challenges for affected dogs and their owners. Understanding the nature of the disorder, its symptoms, and the importance of early diagnosis and management can help improve outcomes for these pets. Genetic testing is an essential tool in both diagnosis and prevention, allowing for responsible breeding practices that can minimize the impact of this disease in the canine population.
測試認可嘅品種： α - 甘露糖苷酸病（ AMD ）
- Doberman Pinscher
🧬 Interpretation of genotypes AMD
基因型
地位
🟡 N/N
非航空公司 - 冇風險
🟡 N/AMD
航空公司 - 冇風險
❌ AMD/AMD
受影響 - 有風險
常見問題：理解解釋
「承載者」係咪認真？
唔係。隻動物一般都係健康嘅，但係可以將突變傳染畀佢 後代。
如果一隻動物係「受影響」嘅話點算好？
佢有兩個突變嘅副本。預計會有臨床症狀，視乎情況而定 個病。唔應該繁殖。
點解男 / 女有分別？
有啲疾病係同性別有關，所以佢哋嘅表現會因疾病而異 動物嘅性別。
預測後代
N/N （%e9%9d%9e%e6%b5%81%e5%8b%95%e7%b6%b2%e7%b5%a1%e4%be%9b%e6%87%89%e5%95%86）
N/AMD （航空公司）
AMD/AMD （受影響）
DNA 測試常見問題
呢個 DNA 測試可以檢測到啲咩？
This DNA test detects the mutation associated with Alpha-Mannosidosis (AMD) in order to identify clear, carrier, or at-risk animals.
點解要測試一隻繁殖動物？
DNA 檢測有助養殖者計劃更安全嘅交配，同埋減低將突變傳播畀後代嘅風險。
呢個測試嘅繼承模式係點？
呢個測試報告嘅遺傳模式係常染色體隱性。
呢個測試會分析邊個突變？
This test analyses the mutation MAN2B1 c.311A>G.
載體動物係咪一定會受到影響？
唔一定。解釋取決於遺傳模式同所產生嘅基因型。
參考文獻
Bullock Garrett, Johnson Gary S, Pattridge Savannah G, MhlangaMutangadura Tendai, Guo Juyuan, Cook James, Campbell Rebecca S, Vite Charles H, Katz Martin L. A Homozygous MAN2B1 Missense Mutation in a Doberman Pinscher Dog with Neurodegeneration, Cytoplasmic Vacuoles, Autofluorescent Storage Granules, and an ?-Mannosidase Deficiency. Genes (Basel). 2023 Aug 31;14(9):1746. doi: 10.3390/genes14091746.