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视网膜母细胞瘤(retinoblastoma,简称Rb),是一种婴幼儿时期易患的眼内恶性肿瘤,恶性程度高,易颅内转移而致死。该肿瘤可分为遗传及非遗传两种类型,约18%～40%病例的发病与遗传因素有关。近来的研究结果显示,视网膜母细胞瘤易感基因位于13号染色体长臂1区4带(13 q 14),遗传方式为常染色体显性遗传,外显率为90%。染色体13 q 14缺失危及了位于这一位点的Rb基因的一对等位基因,并使之失活,导致了肿瘤的发生。我们在研究视网膜母细胞瘤Rb基因缺
Retinoblastoma (retinoblastoma, referred to as Rb), is a childhood malignant intraocular tumors prone to malignancy, easy to death and intracranial metastasis. The tumor can be divided into two types of genetic and non-genetic, about 18% to 40% of cases and genetic factors related to the incidence. Recent studies have shown that the susceptibility gene for retinoblastoma is located in zone 1 and zone 4 (13q14) on chromosome 13 and is autosomal dominant with a penetrance of 90%. Chromosome 13 q 14 deletions endanger a pair of alleles of the Rb gene at this locus and inactivate them, leading to tumorigenesis. We are studying retinoblastoma Rb gene deficiency