首页> 外文期刊>Veterinary Dermatology >Prevalence of the mutation in cyclophilin B (PPIB), a causal candidate gene for HERDA, among Quarter Horses in France.
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Prevalence of the mutation in cyclophilin B (PPIB), a causal candidate gene for HERDA, among Quarter Horses in France.

机译:在法国的四分之一马中,亲缘蛋白B( PPIB )是HERDA的致病性候选基因,这种突变的发生率很高。

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摘要

Hereditary equine regional dermal asthenia (HERDA) in Quarter Horses is an inherited degenerative skin disease. Initially reported as hyperelastosis cutis, HERDA has a phenotype of hyperextensible, fragile skin, with secondary seromas, haematomas, ulcers and scarring. It primarily affects the dorsal aspect of the body. An autosomal recessive mode of inheritance is considered likely, with affected horses more at risk to produce affected offspring. A mutation in cyclophilin B (PPIB) as a novel, causal candidate gene for HERDA has been described, and verified as segregating with carriers and affected horses. Screening of control Quarter Horses in the USA has indicated a 3.5% carrier frequency. The prevalence of this mutation among Quarter Horses in France was determined to be 1.6%.Digital Object Identifier http://dx.doi.org/10.1111/j.1365-3164.2010.00941.x
机译:四分之一匹马的遗传性马区域性皮肤虚弱(HERDA)是一种遗传性退行性皮肤病。 HERDA最初被报道为皮肤过度弹性变态,其表型为过度伸展,脆弱的皮肤,伴有继发性血清肿,血肿,溃疡和疤痕。它主要影响身体的背面。认为常染色体隐性遗传是可能的,受影响的马更容易产生后代。已经描述了亲环蛋白B( PPIB )中的一种突变,它是HERDA的新的,有因果关系的候选基因,并已证实与携带者和患病马分离。在美国对四分马进行控制的筛查表明载波频率为3.5%。据确定,在法国四分之一马中这种突变的患病率为1.6%。数字对象标识符http://dx.doi.org/10.1111/j.1365-3164.2010.00941.x

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