TRANSGENIC ANIMAL MODELS OF HUMAN INHERITED DISORDERS

在许多情况下，自然存在的人类遗传动物模型 疾病，特别是影响神经系统的疾病，尚未得到解决 描述的。 在基因缺陷已被识别的情况下， 将突变DNA引入小鼠种系可以提供 产生具有适当表型的小鼠的独特机会 可以研究疾病的发病机制。 转基因小鼠是由 通过受体复合物靶向将 DNA 显微注射到受精卵中 DNA 和逆转录病毒基因转移。 鼠科动物简介 将胚胎干细胞转化为囊胚期小鼠胚胎 通过基因打靶进行基因改造还可以建立 携带适当突变的小鼠品系。 戈谢氏小鼠模型 疾病和其他遗传性疾病正在使用这些产生 技术。 这种人类疾病的转基因小鼠模型将提供 评估新疗法的宝贵工具，包括 蛋白质/酶替代、细胞移植和基因转移 疗法。 基因的发育和组织特异性表达也可以 在这些转基因小鼠中进行研究。

In many cases naturally occurring animal models of human genetic disorders, especially those affecting the nervous system, have not been described. In those instances where the gene defect has been identified, the introduction of mutant DNA into the germ line of mice can provide a unique opportunity to generate mice having appropriate phenotypes where disease pathogenesis can be studied. Transgenic mice are generated by microinjection of DNA into fertilized eggs, by receptor complex targeting of DNA, and by retroviral gene transfer. Introduction of murine embryonic stem cells into blastocyst stage mouse embryos that have been genetically modified by gene targeting also permits the establishment of mouse strains carrying appropriate mutations. Murine models of Gaucher disease and other inherited disorders are being produced using these techniques. Such transgenic mouse models of human disorders will provide valuable tools for the evaluation of new treatments, including protein/enzyme replacement, cellular transplantation, and gene transfer therapies. Development and tissue specific expression of genes can also be investigated in these transgenic mice.