Ryan T M, Ciavatta D J, Townes T M
Department of Biochemistry and Molecular Genetics, Schools of Medicine and Dentistry, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Science. 1997 Oct 31;278(5339):873-6. doi: 10.1126/science.278.5339.873.
When transgenic mice that expressed human sickle hemoglobin were mated with mice having knockout mutations of the mouse alpha- and beta-globin genes, animals were produced that synthesized only human hemoglobin in adult red blood cells. Similar to many human patients with sickle cell disease, the mice developed a severe hemolytic anemia and extensive organ pathology. Numerous sickled erythrocytes were observed in peripheral blood. Although chronically anemic, most animals survived for 2 to 9 months and were fertile. Drug and genetic therapies can now be tested in this mouse model of sickle cell disease.
当表达人类镰状血红蛋白的转基因小鼠与具有小鼠α和β珠蛋白基因敲除突变的小鼠交配时，产生的动物在成年红细胞中仅合成人类血红蛋白。与许多镰状细胞病患者相似，这些小鼠出现了严重的溶血性贫血和广泛的器官病变。在外周血中观察到大量镰状红细胞。尽管长期贫血，但大多数动物存活了2至9个月且具有生育能力。现在可以在这种镰状细胞病小鼠模型中测试药物和基因疗法。
