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Dwarfism is a form of abnormal development in size and stature.
10 días laborables
Only available in bundles
Especificaciones
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 1 |
| Mode of Inheritance | Autosómico recesivo |
| Organ | |
| Specimen | Pelo, sangre EDTA, sangre Heparina, Semen, Tejido |
Información específica de la prueba
Dwarfism is a form of abnormal development in size and stature. Chondrodysplastic dwarfism can be caused by mutations in the aggrecan (ACAN) gene which inherits in a recessive way. This gene is essential for proper functioning of the articular cartilage. Therefore, any mutations in the ACAN-gene can lead to abnormalities in skeletal development.
The mutation analysed in this test, is published by the University of Kentucky and named D5 or D5kyR. It is a mutation that emerged as a causal variant in that group and is independently segregating from the four previously found mutations (D1, D2, D3* and D4).
Características clínicas
Affected horses show dwarfism phenotypes that range from abortus to viable offspring with evidence of skeletal dysplasia (dwarfism), while carriers of D5kyR may appear slightly smaller than average but are typically clinically healthy.
Información adicional
Esta prueba no cubre todas las pruebas posibles para el enanismo y la displasia esquelética en caballos. Las otras cuatro variantes encontradas en ACAN (D1, D2, D3* y D4) se pueden probar con P306.
D5 fue publicado en una tesis de John Edmund Eberth de la Universidad de Kentucky. La información de esta prueba se verificará con el tiempo para verificar su validez.
Referencias
Pubmed ID: Thesis University of Kentucky John Edmund Eberth
Year published: 2023
Omia ID: 1271
Omia variant ID: