Matsunaga E
Hum Genet. 1980;56(1):53-8. doi: 10.1007/BF00281568.
Data for 27 cases of retinoblastoma that developed in patients with 13q- were collected from the literature and analyzed. The distribution of unilateral and bilateral cases of retinoblastoma differed significantly from the expectation that the degree of expressivity does not differ between the retinoblastoma gene and deletion of 13q. The excess of unilateral cases among the patients with 13q-, which could not be accounted by ascertainment bias, was attributed to somewhat lowered carcinogenic potential of deletion of 13q14 as compared with the retinoblastoma gene. It was argued that the retinoblastoma gene is probably not located on 13q, and perhaps 20% or more of the individuals with a deletion of 13q14 would not develop retinoblastoma. The normal allele at the retinoblastoma locus, the haplicon in the segment of 13q14, and the suppressor genes as defined by the host resistance model, may be all concerned, in their function additively and without dominance, with normal differentiation of the embryonic retinal cells.
从文献中收集并分析了13q-患者发生的27例视网膜母细胞瘤的数据。视网膜母细胞瘤单侧和双侧病例的分布与成视网膜细胞瘤基因和13q缺失之间表达程度无差异的预期有显著不同。13q-患者中单侧病例过多（无法用确诊偏倚解释），这归因于与成视网膜细胞瘤基因相比，13q14缺失的致癌潜力有所降低。有人认为，成视网膜细胞瘤基因可能不在13q上，也许20%或更多的13q14缺失个体不会发生视网膜母细胞瘤。成视网膜细胞瘤位点的正常等位基因、13q14片段中的单倍型以及宿主抗性模型定义的抑制基因，可能在功能上以相加且无显性的方式，与胚胎视网膜细胞的正常分化都有关。
