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Dwarfism is a form of abnormal development in size and stature.
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Specifiche
| Razza | |
|---|---|
| Gene | |
| Cromosoma | 1 |
| Tipo di Ereditarietà | Autosomico Recessivo |
| Organo | |
| Campione | Pelo, Sangue in EDTA, Sangue in Eparina, Seme, Tessuto |
Informazioni generali
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).
Caratteristiche cliniche
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.
Informazioni aggiuntive
Questo test non copre tutti i possibili test per nanismo e displasia scheletrica nei cavalli. Le altre quattro varianti presenti in ACAN (D1, D2, D3* e D4) possono essere testate con P306.
D5 è stato pubblicato in una tesi di John Edmund Eberth dell'Università del Kentucky. Le informazioni di questo test saranno controllate nel tempo per verificarne la validità.
Riferimenti
Pubmed ID: Thesis University of Kentucky John Edmund Eberth
Year published: 2023
Omia ID: 1271
Omia variant ID: