O que significa “Limpar”?
O animal não carrega a mutação. Não desenvolverá a doença e não vai passar adiante.
Gato Porfiria Aguda Intermitente Variante 1 (AIP1)
Discover the importance of the DNA test for Acute Intermittent Porphyria Variant 1 (AIP1) in cats, a genetic condition affecting their health. This specialized test helps identify carriers and affected cats early, enabling timely medical intervention and better management. Understanding AIP1 through DNA testing supports breeders in making informed decisions to reduce the risk of passing this disorder to offspring. Early detection via genetic screening improves the quality of life for cats prone to AIP1 symptoms. Ensure your feline’s health by opting for the AIP1 DNA test, a crucial tool in veterinary genetics. Stay proactive with advanced genetic testing to safeguard your cat’s future. Trust reliable laboratories offering accurate and fast AIP1 DNA test results for cats.
Abreviatura: AIP1
Mutação analisada: HMBS c.107_110del
Herança: Autossômico Recessivo
Acrônimo
AIP1
Frequência observada
Gravidade clínica
Classificação clínica
Doenças Toxicológicas
Mutação analisada
HMBS c.107_110del
p.(D36Vfs*6)
p.(D36Vfs*6)
Modo de herança
Autossômico Recessivo
Resumo do teste:
The Acute Intermittent Porphyria Variant 1 (AIP1) DNA test in cats helps identify genetic mutations linked to this rare metabolic disorder. AIP1 affects the production of heme, leading to symptoms like abdominal pain, neurological issues, and weakness. Early detection through genetic testing allows for better management and prevention of acute attacks. This test is especially useful for breeders to avoid passing the condition to offspring. Understanding a cat’s AIP1 status supports improved health and quality of life.
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.
Overview of Acute Intermittent Porphyria Variant 1 (AIP1) in Cats
Acute Intermittent Porphyria Variant 1 (AIP1) is a genetic disorder that affects the heme synthesis pathway in cats. This condition is caused by a mutation in the gene responsible for producing an enzyme called porphobilinogen deaminase (PBGD). When this enzyme is deficient or non-functional, it leads to an accumulation of porphyrins and their precursors in the body, which can result in a variety of clinical signs and symptoms.
Sinais e Sintomas Clínicos
Cats with AIP1 may exhibit a range of clinical signs that can vary in severity. Common symptoms include abdominal pain, vomiting, neurological disturbances, and changes in behavior. Affected cats may also display signs of agitation, weakness, or seizures during acute crises. These episodes can be triggered by various factors, including stress, certain medications, or dietary changes.
Diagnosis of AIP1
Diagnosis of Acute Intermittent Porphyria Variant 1 typically involves a combination of clinical evaluation and specific laboratory tests. Blood and urine tests may reveal elevated levels of porphyrins or their precursors, which are indicative of the disorder. Genetic testing is also a definitive method to confirm the presence of the mutation associated with AIP1, enabling pet owners and veterinarians to make informed decisions about management and treatment.
Opções de manejo e tratamento
While there is no cure for AIP1, management strategies can help control the symptoms and reduce the frequency of acute episodes. This may include dietary modifications to avoid triggering factors, such as certain medications and high-protein diets. Supportive care during acute attacks, including pain management and hydration, is crucial. Regular veterinary check-ups can help monitor the condition and adjust treatment plans as needed.
Prognosis and Lifelong Considerations
The prognosis for cats with Acute Intermittent Porphyria Variant 1 varies depending on the severity of the symptoms and the effectiveness of management strategies. With appropriate care, many cats can lead relatively normal lives, although they may require ongoing monitoring and adjustments to their treatment plans. Owners should remain vigilant for any signs of crisis and work closely with their veterinarian to ensure the best possible outcomes for their feline companions.
Raça reconhecida para o teste: Porfiria Aguda Intermitente Variante 1 (AIP1)
- Abyssinian
- Aegean
- Alpine Lynx
- Altai
- American Bobtail
- American Bobtail Longhair
- American Bobtail Shorthair
- American Burmese
- American Curl
- American Curl Longhair
- American Curl Shorthair
- American Fold Longhair
- American Fold Shorthair
- American Keuda
- American Longhair
- American Lynx
- American Miniature Cat
- American Polydactyl
- American Ringtail
- American Shorthair
- American Straight Long Hair
- American Straight Shorthair
- American Wirehair
- Anatoli
- Aphrodite
- Aphrodite Giant
- Aphrodite's Giant Longhair
- Aphrodite's Giant Shorthair
- Arabian Mau
- Asian
- Asian Leopard Cat
- Asian Longhair
- Asian Semi-longhair
- Asian Shorthair
- Australian Bombay
- Australian Mist
- Aztec
- Balinese
- Bambino
- Bambino Curl
- BamBob
- Bengal
- Bengal Longhair
- Birman
- Bobcat
- Bohemian Rex
- Bombay
- Bramble
- Brazilian Shorthair
- Bristol
- British Ice Longhair
- British Ice Shorthair
- British Longhair
- British Shorthair
- Burmese
- Burmese European
- Burmese Longhair
- Burmilla
- Burmilla Longhair
- Burmilla Shorthair
- California Spangled
- California Toyger
- Californian Rex
- Canadian Feral Cat
- Canadian Sphynx
- Caracal
- Celtic
- Celtic Shorthair
- Ceylon
- Chantilly-Tiffany
- Chartreux
- Chausie
- Chinchilla Longhair
- Chinese Harlequin
- Chinese Li Hua
- Chinese Tank Cat
- Classicat
- Colorpoint Shorthair
- Companion Cat
- Copper
- Cornish Rex
- Cornish Rex Longhair
- Curly Tail Cat
- Cymric
- Cyprus
- Desert Lynx
- Deutsch Langhaar
- Devon Rex
- Domestic Longhair
- Domestic medium-haired
- Domestic Shorthair
- Don Sphynx
- Donskoy
- Dossow
- Dragon Li
- Dwelf
- Egyptian Mau
- Elf
- European
- European Burmese
- European Shorthair
- Exotic
- Exotic Shorthair
- Experimental
- Fishing Cat
- Foldex
- Foreign White
- Foreign White Longhair
- Foreign White Shorthair
- Gao Taem
- Genetta
- Geoffroy's Cat
- German Longhair
- German Rex
- Havana
- Havana Brown
- Hemingway Curl
- Hibernian Lynx
- Highland Fold
- Highland Lynx
- Highland Straight
- Highlander
- Highlander Longhair
- Highlander Shorthair
- Himalayan
- House Cat Longhair
- House Cat Shorthair
- Household Pet
- Household Pet Kitten
- Household Pet Longhair
- Household Pet Shorthair
- Isle of Man Longhair
- Isle of Man Shorthair
- Jaguarette
- Jaguarundi Curl
- Japanese Bobtail
- Japanese Bobtail Longhair
- Japanese Bobtail Shorthair
- Japanese domestic
- Javanese
- Jungala
- Jungle Cat
- Jungle Curl
- Jungle Lynx
- Junglebob
- Kanaani
- Karelian Bobtail
- Karelian Bobtail Longhair
- Khao Manee
- Khaomanee
- Kinkalow
- Korat
- Korean Bobtail
- Korn Ja
- Kurilian Bobtail
- Kurilian Bobtail Longhair
- Kurilian Bobtail Shorthair
- Lambkin
- LaPerm
- LaPerm Longhair
- LaPerm Shorthair
- Lykoi
- Maine Coon
- Maine Coon Polydactyl
- Manx
- Manx Longhair
- Manx Shorthair
- Me-kong Bobtail
- Meerkat
- Mekong Bobtail
- Minskin
- Minuet
- Minuet Longhair
- Mixed Breed
- Mohave Bob
- Mojave Spotted
- Mokave Jag Cat
- Mountain Bob
- Munchkin
- Munchkin Longhair
- Napoleon
- Nebelung
- Neva Masquerade
- Niebelung
- Non Recognized Hairless
- Non Recognized Longhair
- Non Recognized Shorthair
- Norwegian Forest Cat
- Ocicat
- Ojos Azules
- Oregon Rex (extinct)
- Oriental
- Oriental Bicolor
- Oriental Longhair
- Oriental Shorthair
- Original Longhair
- Owyhee Bob
- Pantherette
- Persian
- Peterbald
- Pharaoh
- Pixiebob
- Pixiebob Longhair
- Puppykat
- Raas
- Ragamuffin
- Ragdoll
- Ruffle
- Russian
- Russian Black
- Russian Blue
- Russian Tabby
- Russian White
- Rusty Spotted Cat
- Sacred Birman
- Safari
- Sam Sawet
- Sashkin Rex
- Savannah
- Scottish Fold
- Scottish Fold Longhair
- Scottish Longhair
- Scottish Shorthair
- Scottish Straight
- Scottish Straight Longhair
- Selkirk Rex
- Selkirk Rex Longhair
- Selkirk Rex Shorthair
- Selkirk Straight
- Serengeti
- Serrade Petit
- Serval
- Siamese
- Siamese Longhair
- Siberian
- Singapura
- Skookum
- Snowbob
- Snowshoe
- Sokoke
- Somali
- Sphynx
- Suffolk
- Suphalak
- Tennessee Bobtail
- Tennessee Rex
- Thai
- Thai Blue Point
- Thai Lilac
- Thai Lilac Point
- Tiffanie
- Tigrette
- Tonkinese
- Tonkinese Longhair
- Tonkinese Shorthair
- Toybob
- Toyger
- Traditional Siamese
- Transylvanian
- Tundra
- Turkish Angora
- Turkish Van
- Turkish Vankedisi
- Ukrainian Levkoy
- Unknown
- Ural Rex
- Ural Rex Longhair
- Vienna Woods
- Viverral
- York Chocolate
🧬 Interpretation of genotypes AIP1
Genótipo
Status
🟡 N/N
Não portador - sem risco
🟡 N/AIP1
Transportadora - Sem Risco
❌ AIP1/AIP1
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/AIP1 (Operadora)
AIP1/AIP1 (Afetado)
Perguntas frequentes sobre testes de DNA
O que este teste de DNA detecta?
This DNA test detects the mutation associated with Acute Intermittent Porphyria Variant 1 (AIP1) 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 HMBS c.107_110del.
Um animal portador é necessariamente afetado?
Não necessariamente. A interpretação depende do padrão de herança e do genótipo resultante.
Referências
Clavero Sonia, Ahuja Yuri, Bishop David F, Kwait Brittany, Haskins Mark E, Giger Urs, Desnick Robert J. Diagnosis of feline acute intermittent porphyria presenting with erythrodontia requires molecular analyses. Vet J. 2013 Dec;198(3):720-2. doi: 10.1016/j.tvjl.2013.10.008. Epub 2013 Oct 10.