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视网膜母细胞瘤(RB)是一种较常见于婴幼儿的眼部恶性肿瘤,发病率为1/20000。RB可分为遗传型和非遗传型两类,约5%RB患者体细胞出现13q14缺失。通常认为双眼发病RB为遗传型,单眼发病RB多为非遗传型,约有15%单眼患者是遗传型。遗传型RB按常染色体显性遗传方式传递,外显率90%。由于RB患者具有一定存活率,并可生育后代,所以RB是研究人类恶性肿瘤遗传机理的理想模型,受到遗传学工作者的重视。下面就RB的遗传学研究进展作一简要综述。
Retinoblastoma (RB) is a more common ocular malignancy in infants and young children with a prevalence of 1/20000. RB can be divided into two types of genetic and non-genetic type, about 5% of RB patients with 13q14 lack of somatic cells. RB is generally considered the incidence of both genotypes of RB, monocular RB mostly non-genetic type, about 15% of monocular patients are genetic. Genetic RB transmitted by autosomal dominant inheritance, penetrance 90%. Because RB patients have a certain survival rate and can give birth to offspring, RB is an ideal model for studying the genetic mechanism of human malignant tumors, which is valued by genetics workers. Here’s a brief overview of the progress of genetic research on RB.