Puga A, Nebert D W, McKinnon R A, Menon A G
Center for Environmental Genetics, University of Cincinnati Medical Center, Ohio 45267-0056, USA.
Crit Rev Toxicol. 1997 Mar;27(2):199-222. doi: 10.3109/10408449709021619.
The human mind was engaged with fundamental questions on the nature of heredity long before the study of genetics became a scientific discipline. Many traits, such as height, eye color, blood pressure, or cancer susceptibility, have been known to run in families, although the genes or combination of genes that underlie these observable characteristics remain unknown in most cases. Differences in susceptibility to environmental agents in humans are likewise determined by variations in genetic background--genetic polymorphisms. In this article, we review the current status of studies on human polymorphisms in drug-metabolizing enzymes and discuss various approaches to the analysis of genetic polymorphisms. We expect that in the near future, novel methods in genetic analysis of human populations will be likely to play a key role in the identification of genes of toxicological relevance.
早在遗传学研究成为一门科学学科之前，人类的思维就已经在思考有关遗传本质的基本问题了。许多性状，如身高、眼睛颜色、血压或癌症易感性，在家族中具有遗传性，尽管在大多数情况下，构成这些可观察特征的基因或基因组合仍不为人所知。人类对环境因素易感性的差异同样由遗传背景的变异——基因多态性所决定。在本文中，我们综述了药物代谢酶中人类多态性研究的现状，并讨论了分析基因多态性的各种方法。我们预计，在不久的将来，人类群体遗传分析的新方法可能会在鉴定具有毒理学相关性的基因方面发挥关键作用。
