Models of human genetic disease in domestic animals.
Models of human genetic disease in domestic animals.
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家畜中的人类遗传疾病模型。
DOI：
10.1007/978-1-4615-8315-8_4
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发表时间：
1982
影响因子：
--
通讯作者：
Jezyk,PF
中科院分区：
文献类型：
--
作者：
Patterson,DF;Haskins,ME;Jezyk,PF
动物自然发生的疾病可以为人类疾病的病因机制、发病机制和治疗提供见解。37，55，75，117，l7o，224动物模型在遗传性疾病的研究中特别有用，其中潜在原因和病理表型之间的事件链难以或不可能在人类中研究（例如，先天性畸形的发病机制），或者其中治疗的评价需要整个哺乳动物生物体（例如，代谢疾病中的酶替代疗法）。由于对正常实验室动物的实验操作不容易产生精确的遗传疾病模型，因此在动物中由基因决定的人类疾病的对应物提供了最合理的替代方案。小型实验室动物，特别是小鼠和大鼠，对遗传学在医学上的应用比其他物种有更大的影响。这在很大程度上是由于近交系的发展，这促进了许多类型的遗传研究，以及哺乳动物遗传学家集中精力描述和绘制在小型啮齿动物中发现的基因突变。家畜对医学知识的贡献较小，部分原因是对这些物种的大多数遗传研究都是针对
It is well recognized that naturally occurring diseases of animals can provide insights into the causal mechanisms, pathogenesis, and therapy of human disease. 37, 55, 75,117, l7o, 224 Animal models are particularly useful in the study of genetic disorders, in which the chain of events between the underlying cause and the pathologic phenotype is difficult or impossible to study in man (eg, pathogenesis of congenital malformations), or in which evaluation of therapy requires a whole mammalian organism (eg, enzyme replacement therapy in metabolic disease). Since accurate models of genetic disorders cannot be readily produced by experimental manipulation of normal laboratory animals, genetically determined counterparts of human disease in animals offer the most plausible alternative. Small laboratory animals, particularly the mouse and rat, have had a greater influence on the application of genetics in medicine than have other species. This has been largely due to the development of inbred strains, which has facilitated many types of genetic investigation, and to the concentrated efforts of mammalian geneticists to characterize and map the gene mutations found in small rodents. The lesser contribution of domestic animals to medical knowledge can be attributed in part to the fact that most genetic studies in these species have been directed