Alter B P, Gaston T, Lipton J M
Polly Annenberg Levee Hematology Center, Mount Sinai School of Medicine, New York, NY.
Eur J Haematol. 1993 May;50(5):275-8. doi: 10.1111/j.1600-0609.1993.tb00162.x.
W/Wv and S1/S1d mice with macrocytic anemias are a potential model for human inherited pure red cell anemia, called Diamond-Blackfan anemia (DBA). The W mutation involves the gene for c-kit, and the S1 mutation the gene for the kit ligand, called mast cell growth factor, steel factor, or stem cell factor. Since many children with DBA respond to treatment with corticosteroids, we administered steroids to these genetically anemic mice, to determine whether they might provide a model for the human disease. There was no improvement in the murine anemia, consistent with other evidence suggesting that mutations in kit or steel may not be involved in Diamond-Blackfan anemia.
患有大细胞性贫血的W/Wv和S1/S1d小鼠是人类遗传性纯红细胞贫血(称为钻石黑范贫血,简称DBA)的潜在模型。W突变涉及c-kit基因,而S1突变涉及kit配体基因,该配体称为肥大细胞生长因子、钢因子或干细胞因子。由于许多DBA患儿对皮质类固醇治疗有反应,我们给这些遗传性贫血小鼠施用了类固醇,以确定它们是否可能为人类疾病提供一个模型。小鼠贫血没有改善,这与其他证据一致,表明kit或钢因子的突变可能与钻石黑范贫血无关。