Iannuzzi M C, Collins F S
Department of Internal Medicine and Human Genetics, Howard Hughes Medical Institute, University of Michigan, Ann Arbor 48109.
Am J Respir Cell Mol Biol. 1990 Apr;2(4):309-16. doi: 10.1165/ajrcmb/2.4.309.
The protein responsible for cystic fibrosis has been identified using an approach called "reverse" genetics. This approach relies on the chromosomal map position to direct the search for a disease gene, several novel cloning strategies to isolate the gene, and the gene's sequence to define the abnormal protein. Reverse genetics, because it does not require prior knowledge of the protein's biochemical function, has wide utility and is being used to define the defects in many single-gene disorders. This update presents the reverse genetics approach and uses cystic fibrosis to illustrate the principles involved.
利用一种称为“反向”遗传学的方法已鉴定出导致囊性纤维化的蛋白质。这种方法依靠染色体图谱位置来指导对疾病基因的搜寻，依靠几种新的克隆策略来分离该基因，并依靠该基因的序列来确定异常蛋白质。反向遗传学由于不需要事先了解蛋白质的生化功能，因而具有广泛的用途，正被用于确定许多单基因疾病中的缺陷。本综述介绍了反向遗传学方法，并以囊性纤维化为例来说明其中涉及的原理。
