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目的对５０例眼视网膜母细胞瘤（ｒｅｔｉｎｏｂｌａｓｔｏｍａ，ＲＢ）病人进行外周血体细胞Ｒｂ１基因杂合性突变的检测工作。方法ＰＣＲ－ＳＳＣＰ（单链构像多态分析）直接测序技术。结果改进的方法可以检测出Ｒｂ１基因１～１０个碱基的多种类型的微小突变。结论可将此快速、敏感、有效的方法用于阐明Ｒｂ１基因突变机制并可以对此类病人及家系在分子水平上进行ＲＢ的产前诊断、产后早期诊断及遗传咨询。
Objective To detect mutations of heterozygous Rb1 gene in peripheral blood of 50 patients with retinoblastoma (RB). Methods PCR-SSCP (single-strand conformation polymorphism analysis) direct sequencing technology. Results The improved method can detect many types of small mutations of 1 to 10 bases of Rb1 gene. Conclusion This rapid, sensitive and effective method can be used to elucidate the mechanism of Rb1 gene mutation and prenatal diagnosis, early postnatal diagnosis and genetic counseling of these patients and their families at the molecular level.