摘要基因改造动物模型可用于基因的功能学研究,传统基因改造费时费力.规律成簇的间隔短回文重复序列/Cas内切酶基因编辑技术是一种新型的基因打靶技术,构建简单、方便且成本较低,能在单个受精卵时期快速实现多个精确的靶基因突变,用于检测基因组中的基因表达和相互作用,明确基因功能.目前该项技术虽处于研究的初步阶段,稳定性方面尚无定论;但因高效的基因改造效率,使得该项技术具有较强的应用前景.通过建立合适的眼部疾病动物模型可以推动遗传性视网膜疾病的基因功能学研究,为基因治疗在眼科领域的开展打下基础.

abstractsClustered regularly interspersed short palindromic repeats/Cas system is a powerful genome-editing tool for efficient and precise genome engineering both in vitro and in vivo,with the advantages of easy,convenient and low cost.This technology makes it possible to simultaneously mutate multiple genes in a single fertilized egg,thus to study the gene expression,genetic interaction and gene function.Even though this method is still in its immature stage and its stability is inconclusive,making precision models of ocular diseases through genome editing may provide a positive effect to explore gene targeted therapy in genetic eye disease.