人类血红蛋白合成障碍的分子基础。

The molecular basis of disorders of human hemoglobin synthesis.

作者信息

Ramirez F, Mears J G, Bank A

出版信息

Mol Cell Biochem. 1980 Aug 16;31(3):133-45. doi: 10.1007/BF00225847.

Abstract

The structure and organization of the human globin genes at the nucleotide level has been established by restriction endonuclease digestion of cellular DNA, and by the isolation and purification of these genes in phage vectors. With this approach it has been possible to define alterations at the DNA level resulting in a group of inherited diseases of man known as the thalassemia syndromes, and related disorders. Combined with other known genetic and biochemical data, these studies provide a framework for understanding the pathogenesis of these disorders at the molecular level.

摘要

通过对细胞DNA进行限制性内切酶消化，以及在噬菌体载体中分离和纯化人类珠蛋白基因，已在核苷酸水平上确定了其结构和组织。通过这种方法，已经能够确定DNA水平上的改变，这些改变导致了一组人类遗传性疾病，即地中海贫血综合征及相关疾病。结合其他已知的遗传和生化数据，这些研究为在分子水平上理解这些疾病的发病机制提供了一个框架。