Mullis P E, Wagner J K
Medical University Kinderklinik, Inselspital, Bern, Switzerland.
Eur J Pediatr. 1995;154(9 Suppl 4):S30-9. doi: 10.1007/BF02191503.
Recent advances in molecular biology and genetics have paved the way to a greater understanding of molecular mechanisms of human disease and, in particular, endocrine disorders. For example, new information concerning the structure and function of different receptors and intracellular signalling has allowed precise definition of the molecular defects involved in various disorders such as McCune-Albright syndrome, growth hormone insensitivity syndromes. Although these conditions might be rare, their susceptibility to analysis was due largely to availability and progress of the molecular biological methods. The aim of this review article is to introduce the language of molecular biology by means of a selected group of endocrine disorders.
分子生物学和遗传学的最新进展为更深入了解人类疾病尤其是内分泌疾病的分子机制铺平了道路。例如，有关不同受体的结构和功能以及细胞内信号传导的新信息，使得能够精确界定各种疾病（如McCune-Albright综合征、生长激素不敏感综合征）所涉及的分子缺陷。尽管这些病症可能较为罕见，但它们易于分析在很大程度上归因于分子生物学方法的可得性和进展。这篇综述文章的目的是通过一组选定的内分泌疾病来介绍分子生物学语言。
