Permutt M A
Metabolism Division, Washington University School of Medicine, St. Louis, Missouri 63110.
Diabetes Care. 1990 Nov;13(11):1150-3. doi: 10.2337/diacare.13.11.1150.
This brief review discusses the current level of understanding of the role of genetic defects in the etiology of non-insulin-dependent diabetes mellitus (NIDDM) and the use of molecular-genetic methods for this study. Evidence for genetic susceptibility is strong, and defects in both insulin production and action are suspect. With restriction-fragment-length polymorphisms and genomic sequencing, various candidate loci are being evaluated. Evidence that multiple genes are involved is only circumstantial. If NIDDM is genetically heterogeneous and also influenced by environmental components, population associations and linkage analyses in families may not be as easily interpreted as for diseases involving single major gene defects.
本简要综述讨论了目前对遗传缺陷在非胰岛素依赖型糖尿病（NIDDM）病因学中的作用的理解水平，以及用于该研究的分子遗传学方法。遗传易感性的证据很充分，胰岛素生成和作用方面的缺陷均受到怀疑。利用限制性片段长度多态性和基因组测序，正在评估各种候选基因座。多个基因参与其中的证据仅是间接的。如果NIDDM在遗传上具有异质性且还受环境因素影响，那么在人群中的关联性以及在家族中的连锁分析可能不像涉及单一主要基因缺陷的疾病那样容易解释。
