TRANSGENIC ANIMAL MODELS OF HUMAN INHERITED DISORDERS

在许多情况下，人类遗传学的自然发生的动物模型 疾病，特别是那些影响神经系统的疾病， 介绍了 在那些已经鉴定出基因缺陷的情况下， 将突变DNA引入小鼠的生殖系中可以提供 产生具有适当表型的小鼠的独特机会，其中 可以研究疾病的发病机制。 转基因小鼠是通过 通过受体复合物靶向将DNA显微注射到受精卵中 和逆转录病毒基因转移。 小鼠介绍 胚胎干细胞移植到囊胚期小鼠胚胎中， 通过基因靶向进行遗传修饰还允许建立 携带适当突变的小鼠品系。 Gaucher小鼠模型 疾病和其他遗传性疾病正在使用这些 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 治疗 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.