RNA干扰技术在医学遗传学中的应用

某些小的双链RNA可以高效特异地阻断体内特定基因表达,促使mRNA降解,诱使细胞表现出特定基因缺失的表型,称为RNA干扰(RNAi).RNAi同时也是体内抵御外在感染的一种重要保护机制.作为一种简单有效的代替基因敲除的遗传工具,RNAi将大大加速功能基因组学的研究进展,被Science评为2002年最重要的科研成果之一.RNAi导致的基因沉默发生在转录后,所以被称为转录后基因沉默(PTGS).

The application of RNAi to the medical genetis

Experimental RNA interference (RNAi) leading to the selective knockdown of gene function is induced by introducing into cells either double stranded RNA (dsRNA), or short interfering RNA (siRNA) fragments into which dsRNA is cut. The siRNA triggers degradation of homologous messengerRNA (mRNA). Widely used as a research tool in the genetic model organisms Caenorhabditis elegans, Drosophila melanogaster and mouse to investigate the function of individual genes, RNAi has also been deployed in genome-wide, specific gene-knockdown screens. Recent rapid progress in the application of RNAi to mammalian cells, including neurons and muscle cells, offers new approaches to drug target identification and validation.Advances in targeted delivery of RNAi-inducing molecules have raised the possibility of using RNAi directly as a therapy for a variety of human genetic and other neural and neuromuscular disorders. Here, we review examples of the application of RNAi to worm, fly and mouse models of such diseases aimed at understanding their pathophysiology.