「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。
馬 Polysaccharide Storage Myopathy Variant 1 (PSSM1)
Polysaccharide Storage Myopathy Variant 1 (PSSM1) is a common genetic muscle disorder in horses that affects their ability to store and use glycogen properly. This DNA test identifies horses carrying the PSSM1 mutation, helping breeders and owners manage the condition effectively. Early detection through the PSSM1 DNA test can prevent muscle stiffness, weakness, and tying-up episodes in affected horses. By understanding a horse’s genetic status, owners can tailor nutrition and exercise plans to improve performance and overall health. The PSSM1 test is essential for responsible breeding decisions to reduce the prevalence of this hereditary disorder. Accurate and reliable, this test supports equine welfare and longevity. Get your horse tested today to ensure a healthier, stronger future.
縮寫： PSSM1
分析咗嘅突變： GYS1 c.926G/A
遺產 ： Autosomal Dominant
首字母縮寫
PSSM1
觀察到嘅頻率
臨床嚴重性
臨床分類
肌肉疾病
分析咗嘅突變
GYS1 c.926G/A
p.(R309H)
p.(R309H)
繼承方式
Autosomal Dominant (Incomplete)
測試摘要：
Polysaccharide Storage Myopathy Variant 1 (PSSM1) is a genetic muscle disorder in horses that affects their ability to store and use glycogen properly. Horses with PSSM1 often experience muscle stiffness, weakness, and pain, especially after exercise. The DNA test for PSSM1 identifies horses carrying the mutation responsible for this condition, allowing owners to manage their diet and exercise to reduce symptoms. Early detection through genetic testing helps improve the horse's quality of life and performance. Responsible breeding decisions can also be made to reduce the prevalence of PSSM1 in future generations.
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。
Overview of Polysaccharide Storage Myopathy Variant 1 (PSSM1)
Polysaccharide Storage Myopathy Variant 1 (PSSM1) is a genetic condition that primarily affects horses, leading to muscle dysfunction and other associated issues. It is characterized by an abnormal accumulation of polysaccharides, particularly glycogen, within muscle cells. This condition can severely impact a horse's performance and overall well-being.
Pathophysiology of PSSM1
The underlying cause of PSSM1 is a mutation in the gene responsible for glycogen synthesis. This mutation leads to an excessive build-up of glycogen in muscle tissues, which disrupts normal muscle function. As a result, affected horses may experience muscle stiffness, cramping, and episodes of tying-up after exercise. The accumulation of polysaccharides also affects the horse's ability to metabolize energy efficiently during physical activity.
臨床徵兆同症狀
Horses with PSSM1 may exhibit a range of clinical signs, including muscle stiffness, reluctance to move, and noticeable muscle wasting. These symptoms can vary in severity and may be exacerbated by exercise or dietary changes. Some horses may also experience episodes of myopathy, where muscle cells become damaged and lead to pain and discomfort.
Diagnosis of PSSM1
A definitive diagnosis of PSSM1 is achieved through genetic testing, which identifies the presence of the specific mutation associated with the condition. Early diagnosis is crucial, as it allows for timely management of the condition, potentially improving the horse's quality of life and performance capabilities. The DNA test can be performed even if the horse is asymptomatic, making it an important tool for breeders and owners.
管理同治療
While there is currently no cure for PSSM1, effective management strategies can greatly improve the quality of life for affected horses. Management typically involves dietary modifications, such as reducing carbohydrates and increasing fat in the diet, to help manage insulin levels and energy availability. Regular, controlled exercise is also recommended to maintain muscle tone and prevent further complications.
結論
Polysaccharide Storage Myopathy Variant 1 (PSSM1) is a significant condition that can impact a horse's health and performance. Understanding the genetic aspects of this disorder, along with its symptoms and management strategies, is vital for owners and trainers. By utilizing DNA testing, horse owners can make informed decisions regarding breeding and care, ultimately enhancing the well-being of their equine companions.
測試認可嘅品種： Polysaccharide Storage Myopathy Variant 1 (PSSM1)
- American Paint
- Appaloosa
- Belgian Draft
- Quarter Horse
🧬 Interpretation of genotypes PSSM1
基因型
地位
🟡 N/N
非航空公司 - 冇風險
🟡 N/PSSM1
Carrier - At Risk
❌ PSSM1/PSSM1
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/PSSM1 （航空公司）
PSSM1/PSSM1 （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 Polysaccharide Storage Myopathy Variant 1 (PSSM1) 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？
The inheritance mode reported for this test is Autosomal Dominant.
呢個測試會分析邊個突變？
This test analyses the mutation GYS1 c.926G/A.
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
McCue Molly E, Valberg Stephanie J, Miller Michael B, Wade Claire, DiMauro Salvatore, Akman Hasan O, Mickelson James R. Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis. Genomics. 2008 May;91(5):458-66. doi: 10.1016/j.ygeno.2008.01.011. Epub 2008 Mar 20.