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目地研究双眼视网膜母细胞瘤患者Rb1基因杂合性突变的分子生物学特性。方法应用PCR—SSCP直接测序技术检测双眼视网膜母细胞瘤患者白细胞DNA中Rb1基因杂合性突变。结果50例证实有Rb1基因杂合性突变的病例中有1例发生于第16内含子中可以用3种定位方法解释、具有相同序列的21个碱基缺失。结论这种极为少见的Rb1基因突变方式可能是由于破坏了正常拼接位点的结构而激活了“隐蔽拼接位点”，导致异常的Rb1基因mRNA产生或由此影响整个拼接过程。
Objective To study the molecular biological characteristics of Rb1 heterozygous mutation in patients with binocular retinoblastoma. Methods The heterozygous mutation of Rb1 gene in leukocyte DNA of patients with binocular retinoblastoma was detected by PCR-SSCP direct sequencing. Results One of the 50 cases confirmed the heterozygous mutation of Rb1 gene occurred in the 16th intron and could be explained by three kinds of localization methods, and the deletion of 21 bases with the same sequence. Conclusions This extremely rare mutation in the Rb1 gene may be due to disruption of the normal splicing site and activation of the “hidden splicing site,” resulting in aberrant Rb1 mRNA production or thereby affecting the entire splicing process.