Bank A
Curr Top Hematol. 1985;5:1-23.
In summary, the beta-thalassemias are models for the study of human genetic disease. Defining the genetic defects in and surrounding the beta-globin gene in the beta(+)- and the beta(0)-thalassemias has resulted in new insights into the relationships between changes in gene structure and abnormalities in gene function. The region 5' to the beta-gene, the coding regions within the gene, and the IVS have all been found to contain single nucleotide defects which diminish or abolish beta-globin mRNA production and the production of beta-globin. The ability to isolate beta-globin genes by cloning, and to express these beta-globin genes in cells, has given remarkable insights into the relationship between globin gene structure and globin gene function. In addition, new technology is available for the antenatal diagnosis of the beta-thalassemias based on the knowledge of the specific defects in these genes, with the use of oligomers to detect single nucleotide changes. Finally, recent advances have suggested new approaches to gene therapy in these disorders using gene transfer.
总之，β地中海贫血是人类遗传疾病研究的模型。确定β⁺和β⁰地中海贫血中β珠蛋白基因及其周围的遗传缺陷，使人们对基因结构变化与基因功能异常之间的关系有了新的认识。已发现β基因5'端区域、基因内的编码区以及内含子均含有单核苷酸缺陷，这些缺陷会减少或消除β珠蛋白mRNA的产生以及β珠蛋白的产生。通过克隆分离β珠蛋白基因并在细胞中表达这些β珠蛋白基因的能力，使人们对珠蛋白基因结构与珠蛋白基因功能之间的关系有了非凡的见解。此外，基于对这些基因特定缺陷的了解，利用寡聚物检测单核苷酸变化，已有新技术可用于β地中海贫血的产前诊断。最后，最近的进展为这些疾病的基因治疗提出了使用基因转移的新方法。
