Gottesman M M, Collins F S
National Center for Human Genome Research, National Institutes of Health, Bethesda, Maryland 20892.
Prev Med. 1994 Sep;23(5):591-4. doi: 10.1006/pmed.1994.1094.
The Human Genome Project has made it easier to genetically map and clone mutant genes which predispose to a great many human diseases. In addition to diseases inherited in a simple Mendelian fashion, there are many degenerative and infectious diseases, and sensitivities to environmental insults, in which the genetic make-up of an individual contributes to the course of the disease. Once a gene or genes associated with disease has been cloned, it is possible to design DNA-based diagnostics to detect altered forms of the gene which predispose to disease. The ability to predict the development of disease makes possible early intervention to limit the severity of a disease or to use gene therapy to cure inherited disorders.
人类基因组计划使得对导致众多人类疾病的突变基因进行遗传定位和克隆变得更加容易。除了以简单孟德尔方式遗传的疾病外，还有许多退行性和传染性疾病，以及对环境侵害的易感性，在这些情况中个体的基因构成会影响疾病的进程。一旦与疾病相关的一个或多个基因被克隆出来，就有可能设计基于DNA的诊断方法来检测易导致疾病的基因变异形式。预测疾病发展的能力使得早期干预成为可能，从而限制疾病的严重程度或利用基因疗法治愈遗传性疾病。
