Molecular genetics of RB1--the retinoblastoma gene.
Molecular genetics of RB1--the retinoblastoma gene.
复制标题
DOI：
10.1080/08820530701745165
复制
发表时间：
2007-10-01
影响因子：
1.7
通讯作者：
Mukai, Shizuo
中科院分区：
文献类型：
--
作者：
Leiderman, Yannek I;Kiss, Szilard;Mukai, Shizuo
37年前，Alfred Knudson提出了他的视网膜母细胞瘤分子病因学的“两次打击”理论，为肿瘤发生建立了一个优雅的概念范式。大量的工作随后阐明了RB 1基因的结构和功能及其蛋白产物pRB的生物学。多种类型的突变已被表征并与表型表达相关，包括易位、缺失、插入和点突变。本文综述了视网膜母细胞瘤的分子遗传学和基因型-表型相关性。
Thirty-seven years ago Alfred Knudson proposed his "two-hit" theory of the molecular etiology of retinoblastoma, establishing an elegant conceptual paradigm for tumorigenesis in general. A great body of work has subsequently elucidated the structure and function of the RB1 gene and the biology of its protein product, pRB. Multiple categories of mutations have been characterized and correlated with phenotypic expression, including translocations, deletions, insertions, and point mutations. The purpose of this review is to provide a concise overview of the molecular genetics and genotype-phenotype correlations in retinoblastoma.