19例世界首报染色体异常核型断裂点与疾病基因筛选及脆性部位关系分析

Relation analysis of 19 cases of the world-first-reported chromosome abnormalities karyotype breakpoint and disease gene screening and fragile sites.

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 discuss the relationship between the world - first - reported chromosomal abnormalities karyotype and disease gene screening and fragile sites. Methods： Analyzing the world - first - reported chromosomal abnormalities karyotype and disease specific gene rearrangements and fragile sites. Results： Breakpoint matches with a number of disease - specific gene rear- rangements, and has certain relationship with fragile sites. Conclusion ： Detection of the world - first - reported chromosome abnormalities nuclear can reduce the incidence of the crowd, and also can provide important clues to disease gene screening and localization.