Rotter J I, Rimoin D L
Diabetes Care. 1979 Mar-Apr;2(2):215-26. doi: 10.2337/diacare.2.2.215.
The search for genetic markers has established that idiopathic diabetes mellitus is a genetically heterogeneous group of disorders that have glucose intolerance in common. The types of genetic markers--subclinical linkage, and association--and how they are utilized to delineate the genetic basis of the diabetic syndrome are discussed. The use of such markers as insulin levels, pancreatic islet cell antibodies, and HLA antigens has permitted the separation of insulin-dependent (juvenile) and not insulin-dependent (maturity) diabetes. Such studies have also started to reveal heterogeneity within these broad groups of insulin-dependent and not insulin-dependent types. This extensive heterogeneity has major implications for understanding the pathogenesis and genetics of diabetic mellitus and is of potentially great clinical significance, since the natural history and complications may well differ between these different disorders.
对遗传标记的研究已证实，特发性糖尿病是一组具有遗传异质性的疾病，它们共同的特点是存在葡萄糖耐量异常。本文讨论了遗传标记的类型——亚临床连锁和关联——以及如何利用它们来阐明糖尿病综合征的遗传基础。通过使用胰岛素水平、胰岛细胞抗体和HLA抗原等标记物，已经能够区分胰岛素依赖型（青少年型）糖尿病和非胰岛素依赖型（成年型）糖尿病。这些研究还开始揭示在这些广泛的胰岛素依赖型和非胰岛素依赖型糖尿病群体中存在的异质性。这种广泛的异质性对于理解糖尿病的发病机制和遗传学具有重要意义，并且可能具有重大的临床意义，因为这些不同疾病的自然病程和并发症很可能有所不同。
