目的探讨世界首报染色体异常与疾病基因筛选及脆性部位的关系。方法对世界首报染色体异常核型断裂位点与疾病所特有基因重排及脆性部位进行分析。结果断裂位点与一些疾病特有的基因重排相吻合,与脆性部位有一定的相关性。结论世界首报染色体异常核型的检出,可降低人群发病率,并为疾病基因筛选、定位提供重要线索。 Objective To investigate the relationship between chromosomal abnormalities and disease gene screening and brittle parts of the world’s first reported chromosomes. Methods The first reported chromosomal abnormalities karyotypic cleavage sites and disease-specific gene rearrangement and fragile sites were analyzed. Results The site of the break coincided with the gene rearrangement specific to some diseases and had some correlation with the fragile parts. Conclusion The detection of abnormal chromosome karyotype in the world’s first report can reduce the incidence of the disease and provide important clues for the screening and localization of disease genes.