一匹比利时挽马的先天性脑积水与B3GALNT2基因的无义突变有关。
Congenital hydrocephalus in a Belgian draft horse associated with a nonsense mutation in B3GALNT2.
作者信息
Kolb David Scott, Klein Claudia
机构信息
Lodi Veterinary Care, 705 North Main Street, Lodi, Wisconsin 53555, USA (Kolb); University of Calgary, Faculty of Veterinary Medicine, 3280 Hospital Drive NW, Calgary, Alberta T2N 4Z6 (Klein).
出版信息
Can Vet J. 2019 Feb;60(2):197-198.
Abstract
Congenital hydrocephalus has been reported for a number of horse breeds, and for Friesian horses this condition has been associated with a nonsense mutation of B3GALNT2. We report the first case of congenital hydrocephalus associated with the said mutation in a Belgian draft horse. Genetic testing and consideration of the testing results in breeding programs are warranted.
摘要
先天性脑积水在多个马种中都有报道，对于弗里斯兰马来说，这种情况与B3GALNT2基因的无义突变有关。我们报告了一匹比利时挽马中首例与上述突变相关的先天性脑积水病例。在育种计划中进行基因检测并考虑检测结果是必要的。
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Mol Cell Probes. 2017 Apr;32:69-71. doi: 10.1016/j.mcp.2016.12.005. Epub 2016 Dec 21.
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