Bank A, Mears J G, Ramirez F
Science. 1980 Feb 1;207(4430):486-93. doi: 10.1126/science.7352255.
Studies of the human hemoglobin system have provided new insights into the regulation of expression of a group of linked human genes, the gamma-delta-beta-globin gene complex in man. In particular, the thalassemia syndromes and related disorders of man are inherited anemias that provide mutations for the study of the regulation of globin gene expression. New methods, including restriction enzyme analysis and cloning of cellular DNA, have made it feasible to define more precisely the structure and organization of the globin genes in cellular DNA. Deletions of specific globin gene fragments have already been found in certain of these disorders and have been applied in prenatal diagnosis.
对人类血红蛋白系统的研究为深入了解一组连锁的人类基因——人类γ-δ-β-珠蛋白基因复合体的表达调控提供了新的见解。特别是，人类的地中海贫血综合征及相关疾病是遗传性贫血，它们为研究珠蛋白基因表达的调控提供了突变。包括限制性酶切分析和细胞DNA克隆在内的新方法，使得更精确地确定细胞DNA中珠蛋白基因的结构和组织成为可能。在某些此类疾病中已经发现了特定珠蛋白基因片段的缺失，并已应用于产前诊断。
