【摘要】 目的 检测视网膜母细胞瘤(RB)病人体细胞中RB1基因突变，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RB病人白细胞基因组DNA，测序分析确定突变。 结果 在12例RB病人中，确定3例RB1基因生殖细胞性突变。他们分别是第10外显子中T至A杂合性突变，将苯丙氨酸编码序列变为酪氨酸编码序列;第10外显子1bp碱基缺失(GAT→AT)，发生阅读框架改变;第22外显子中A至T杂合性突变，将精氨酸序列变为终止密码。 结论 这3例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。

    关键词 视网膜母细胞瘤 基因 突变 RB1

    Detection of heterozygous mutations of RB1gene in patients with retinoblastoma

    Sheng Xunlun，Wu Weimin，Zhuang Wenjuan，et al.

    Department of Ophthalmology，First People's Hospital of Qingdao Economic&Technical Development Zone，Qingdao266555.

    【Abstract】 Objective To study RB1heterozygous mutations in patients with retinoblastoma.Methods Genom-ic DNA was used as a template for the PCR reaction to amplify all exons of RB1gene.These PCR products were screened by single strand conformation polymorphism(SSCP)and subjected to direct sequencing.Results Three germcell muta-tions in the RB1gene were identified in collected genomic DNA from RB patients:a T to A transition(TTC→TAC)at exon10 ......