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视网膜母细胞瘤（ｒｅｔｉｎｏｂｌａｓｔｏｍａ，ＲＢ）是婴幼儿最多见的眼内恶性肿瘤，分为遗传型和非遗传型。遗传型发病早，多为双眼发病，发生第二肿瘤的危险性较高。遗传学检查可以确诊遗传型病例，预测家系成员发病危险及筛查突变基因携带者。Ｒｂ基因是人类第一个被分离的抑癌基因，于１９８６年分离并克隆成功后，分子生物学技术应用于ＲＢ遗传学的研究，显示了重要作用和广阔前景。本文就ＲＢ遗传学和最新的分子生物学检测技术作一综述。
Retinoblastoma (RB) is the most common intraocular malignant tumor in infants and is classified into hereditary and non-genetic. Hereditary onset is early, mostly in the eyes, with a higher risk of secondary tumors. Genetic tests can confirm hereditary cases, predict the risk of family members, and screen for mutations in genetic carriers. The Rb gene is the first human isolated tumor suppressor gene. After being isolated and successfully cloned in 1986, molecular biology techniques have been applied to the study of RB genetics, showing important roles and broad prospects. This article reviews RB genetics and the latest molecular biology detection techniques.