荧光原位杂交(fluorescence in situ hybridization,FISH)技术是一门新兴的分子细胞遗传学技术,不仅应用于科研,在对于疾病的预测、检测、诊断中也发挥了重要作用。该文主要从染色体水平,讨论以DNA探针为主的FISH在分析染色体异常(chromosomal aberrations,CA),包括染色体数目的改变、重复、扩增、缺失、易位,及染色体断裂点精细作图中的应用,以及展望FISH目前的发展状况。 Fluorescence in situ hybridization (FISH) is an emerging molecular cytogenetics technology, which not only applies to scientific research, but also plays an important role in the prediction, detection and diagnosis of diseases. This paper mainly focuses on the level of chromosomes and discusses DNA probe-based FISH in the analysis of chromosomal aberrations (CA), including chromosome number changes, duplication, amplification, deletion, translocation and fine mapping of chromosome breakpoints In the application, as well as the prospects for the current development of FISH.