Retinoblastoma: Host resistance and 13q- chromosomal deletion
Retinoblastoma: Host resistance and 13q- chromosomal deletion
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视网膜母细胞瘤：宿主抵抗和 13q-染色体缺失
DOI：
10.1007/bf00281568
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发表时间：
1980
期刊：
影响因子：
5.3
通讯作者：
E. Matsunaga
中科院分区：
文献类型：
--
作者：
E. Matsunaga
本文收集了27例13 q-患者发生的视网膜母细胞瘤的资料并进行分析。视网膜母细胞瘤的单侧和双侧病例的分布与预期的显著不同，即视网膜母细胞瘤基因和13 q缺失之间的表达度没有差异。13 q-患者中单侧病例的过多，不能用确定偏倚来解释，这是由于与视网膜母细胞瘤基因相比，13 q14缺失的致癌潜力有所降低。有人认为，视网膜母细胞瘤基因可能不位于13 q上，也许20%或更多的13 q14缺失的个体不会发展成视网膜母细胞瘤。视网膜母细胞瘤基因座的正常等位基因、13 q14片段中的单倍子和宿主抗性模型定义的抑制基因可能都与胚胎视网膜细胞的正常分化有关，其功能是相加的而不是显性的。
SummaryData 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 for 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.