国人视网膜母细胞瘤患者RB1基因突变的特性

Mutations analysis of RB1 gene in Chinese patients with retinoblastoma

目的:检测国人RB患者体细胞中RB1基因突变,分析我国RB1基因突变的特性,探讨RB1基因突变的分子生物学机制。方法:应用PCR—SSCP技术筛查28例RB患者及亲属的白细胞基因组DNA,测序分析确定突变。结果:共确定7例RB1基因生殖细胞性突变。结论:本组RB1基因生殖细胞性突变的方式为点突变和小缺失,这些突变改变了RB1基因的遗传信息,致使异常的RB1基因蛋白产生,导致视网膜母细胞瘤的发生。中国RB1基因突变方式主要是以微小突变为主,但复杂突变的比例相对较高。

AIM： To study RB1 heterozugous mutations in patients with retinoblastoma and compare the characteristics of the RB1 gene mutation in Chinese and foreigners with retinoblastoma. METHODS： Genomic DNA was used as a template for the PCR reaction to amplify all exons of RB1 gene. These PCR products were screened by single strand conformation polymorphism （SSCP） and subjectd to direct sequencing. RESULT： Seven germline mutations in the RB1 gene were identified in collected genomic DNA from RB patients. CONCLUSION： Mutations in RB1 gene were involving may involve a few base pairs in Chinese and foreigners with retinoblastoma. As a result of such mutation, the normal function of pRB are usually disrupted and retinoblasstoma occurred. Complex mutation appears more common in Chinese than in Caucasian.