Limborskaia S A
Ontogenez. 1976;7(6):566-78.
The application of some molecular biological methods for studying the causes of hereditary diseases induced by quantitative changes of the normal protein synthesis is discussed. The group of hereditary anemiae in humans (alpha- and beta-thalassaemia) taken as an example, possible defects at various stages of the protein synthesis control and modern methods of the analysis of these defects are considered and promises offered by such approaches are shown.
本文讨论了一些分子生物学方法在研究正常蛋白质合成数量变化引起的遗传性疾病病因方面的应用。以人类遗传性贫血症(α-和β-地中海贫血)为例,探讨了蛋白质合成控制各个阶段可能存在的缺陷以及分析这些缺陷的现代方法,并展示了这些方法所带来的前景。