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校园综合征(CPS)的遗传与基因定位:猪的一种高频震颤疾病

Inheritance and genetic mapping of the Campus syndrome (CPS): a high-frequency tremor disease in pigs.

作者信息

Tammen I, Schulze O, Chavez-Moreno J, Waberski D, Simon D, Harlizius B

机构信息

Department of Animal Breeding and Genetics, Hanover School of Veterinary Medicine, Germany.

出版信息

J Hered. 1999 Jul-Aug;90(4):472-6. doi: 10.1093/jhered/90.4.472.

Abstract

A new progressive tremor disorder called Campus syndrome (CPS) was observed among the progeny of a normal boar of the Pietrain breed in Germany. Extensive backcross experiments indicate that CPS is inherited as an autosomal dominant trait, and the founder boar, Campus, is believed to be a gonadal mosaic. A linkage analysis of 57 animals mapped the CPS gene to a region on porcine chromosome 7 flanked by the markers SW1418 and SW352, which is homologous to a part of human chromosome (HSA) 14. Human dominant distal myopathy type 1 (MPD1) has been mapped to the homologous region of HSA14. As the myopathological findings in MDP1 show striking similarities to CPS, this porcine disorder may serve as an animal model for MPD1.

摘要

在德国皮特兰品种一头正常公猪的后代中,观察到一种名为校园综合征(CPS)的新型进行性震颤疾病。广泛的回交实验表明,CPS作为常染色体显性性状遗传,且奠基公猪“校园”被认为是性腺嵌合体。对57只动物进行的连锁分析将CPS基因定位到猪7号染色体上一个由标记SW1418和SW352侧翼的区域,该区域与人类14号染色体(HSA)的一部分同源。人类显性远端肌病1型(MPD1)已被定位到HSA14的同源区域。由于MPD1的肌病理学发现与CPS有显著相似性,这种猪的疾病可能作为MPD1的动物模型。

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