摘要
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.
出处
《国际眼科杂志》
CAS
2006年第1期75-77,共3页
International Eye Science
基金
笹川医学奖学金(2000)资助