遗传性视网膜母细胞瘤：延迟突变还是宿主抗性？
Hereditary retinoblastoma: delayed mutation or host resistance?
作者信息
Matsunaga E
出版信息
Am J Hum Genet. 1978 Jul;30(4):406-24.
Abstract
Evidence is presented from the literature that there is little need to postulate delayed mutation for the retinoblastoma locus. Both penetrance and expressivity in the gene carrier can be defined as a variable determined by genetic and environmental factors, not by a Poisson distribution of tumors formed. Of individuals who received a new mutation from a healthy parent, approximately 13% do not manifest retinoblastoma, and the heritability of the host resistance is estimated at about 90%. The nonhereditary form of retinoblastoma may occur in the most susceptible group of the population.
摘要
文献中的证据表明，对于视网膜母细胞瘤基因座，几乎没有必要假定存在延迟突变。基因携带者的外显率和表现度都可定义为由遗传和环境因素决定的变量，而非由形成肿瘤的泊松分布决定。从健康父母那里获得新突变的个体中，约13%不会表现出视网膜母细胞瘤，宿主抗性的遗传率估计约为90%。视网膜母细胞瘤的非遗传形式可能发生在人群中最易感的群体中。
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