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Case report: bovine congenita erythropoietic protoporphyria in a pedigree Limousin herd

机译:病例报告:家谱利木赞群的牛先天性造血原卟啉症

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摘要

Bovine congenital erythropoietic protoporphyria (BCEPP), a disease caused by adecrease in activity of ferrochelatase enzyme, is most commonly characterised by photosensitisation and seizures. BCEPP is inherited as a simple, autosomal recessivedefect, with only homozygote individuals exhibiting clinical signs, and occurs mainly in pure Limousin cattle. There is no specific treatment and the disease can be prevented by avoiding mating of carriers of the defective gene; these can be identified using DNA analysis. This report describes two cases of BCEPP in a pedigree Limousin herd anddiscusses the investigation of the condition and implications for the herd.
机译:牛先天性红细胞生成性原卟啉病(BCEPP)是一种由铁螯合酶活性降低引起的疾病,最常见的特征是光敏化和癫痫发作。 BCEPP被遗传为一种简单的常染色体隐性缺陷,只有纯合子个体显示出临床体征,并且主要发生在纯利木赞牛中。没有特定的治疗方法,可以通过避免缺陷基因的携带者交配来预防疾病。这些可以使用DNA分析来鉴定。本报告描述了一个谱系利木赞牛群中的两个BCEPP病例,并讨论了对该牛群的状况及其影响的调查。

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