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人类遗传疾病的动物模型。

Animal models of human genetic diseases.

作者信息

Smithies O

机构信息

Department of Pathology, University of North Carolina, Chapel Hill 27599-7525.

出版信息

Trends Genet. 1993 Apr;9(4):112-6. doi: 10.1016/0168-9525(93)90204-u.

Abstract

Gene targeting in cultured embryonic stem cells permits the generation of mice with a desired alteration in a chosen target gene. Application of this procedure to create mouse models of human diseases is revealing the innate complexity of diseases normally ascribed to single gene defects. Modeling human diseases that are known to be multigenic in origin and are markedly influenced by environmental factors is potentially even more revealing.

摘要

在培养的胚胎干细胞中进行基因靶向操作,可以培育出在选定的目标基因中具有所需改变的小鼠。将这一程序应用于创建人类疾病的小鼠模型,正揭示出通常归因于单基因缺陷的疾病所固有的复杂性。对已知起源于多基因且受环境因素显著影响的人类疾病进行建模,可能会更具启发性。

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