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牛头梗的遗传性肾炎:常染色体显性基因遗传的证据。

Hereditary nephritis in the bull terrier: evidence for inheritance by an autosomal dominant gene.

作者信息

Hood J C, Robinson W F, Huxtable C R, Bradley J S, Sutherland R J, Thomas M A

机构信息

Division of Veterinary Biology, School of Veterinary Studies, Murdoch University, Western Australia.

出版信息

Vet Rec. 1990 May 5;126(18):456-9.

PMID:2356601
Abstract

A high prevalence of renal failure has been reported in bull terriers in Australia. The pattern of inheritance was analysed in a family of 33 bull terriers in which 10 dogs had renal disease manifested by proteinuria, ultrastructural abnormalities in the glomerular basement membrane, renal failure, or 'end stage' kidneys. The presence of at least one affected parent for each affected offspring, the approximately equal male/female ratio and the apparent absence of 'generation-skipping', strongly supported an autosomal dominant mode of inheritance, assuming a fully penetrant single major gene locus. Further evidence was not compatible with either an autosomal recessive or X-linked inheritance pattern. This contrasts with the X-linked inheritance shown in Alport's-type human hereditary nephritis and hereditary glomerulopathy in the samoyeds. Hereditary nephritis in the bull terrier should be a useful model for non-Alport's-type human hereditary nephritis, which is also reported to have an autosomal dominant inheritance pattern.

摘要

据报道,澳大利亚牛头梗肾衰竭的患病率很高。对一个有33只牛头梗的家族进行了遗传模式分析,其中10只狗患有肾脏疾病,表现为蛋白尿、肾小球基底膜超微结构异常、肾衰竭或“终末期”肾脏。每个患病后代至少有一个患病亲本,雌雄比例大致相等,且明显不存在“隔代遗传”,这有力地支持了常染色体显性遗传模式,假设存在一个完全显性的单一主要基因座。进一步的证据与常染色体隐性遗传或X连锁遗传模式均不相符。这与阿尔波特型人类遗传性肾炎和萨摩耶犬遗传性肾小球病中显示的X连锁遗传形成对比。牛头梗的遗传性肾炎应该是研究非阿尔波特型人类遗传性肾炎的有用模型,据报道,非阿尔波特型人类遗传性肾炎也具有常染色体显性遗传模式。

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Hereditary nephritis in the bull terrier: evidence for inheritance by an autosomal dominant gene.牛头梗的遗传性肾炎:常染色体显性基因遗传的证据。
Vet Rec. 1990 May 5;126(18):456-9.
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Renal prognosis in Alport's and related syndromes: influence of the mode of inheritance.Alport综合征及相关综合征的肾脏预后:遗传方式的影响。
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Ultrastructural appearance of renal and other basement membranes in the Bull terrier model of autosomal dominant hereditary nephritis.常染色体显性遗传性肾炎牛头梗模型中肾脏及其他基底膜的超微结构表现
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Autosomal dominant Alport's syndrome: study of a large Tunisian family.常染色体显性遗传性阿尔波特综合征:对一个突尼斯大家族的研究。
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New form of X-linked dominant hereditary nephritis in dogs.犬类X连锁显性遗传性肾炎的新形式。
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Characteristic ultrastructural lesion of the glomerular basement membrane in progressive hereditary nephritis (Alport's syndrome).进行性遗传性肾炎(阿尔波特综合征)肾小球基底膜的特征性超微结构病变。
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