双生子视网膜母细胞瘤遗传学和临床表现

报告一对经生育史,红细胞血型(ABO、MN、Rh、P),血清型(Hp,Gc),酯酶D(EsD)表型及HLA(A、B、Cw)多种遗传标记检测而确诊为同卵双生子的视网膜母细胞瘤病例,同时于45天出现“猫眼”症状,孪生弟右眼、孪生兄双眼眼球摘除后,病理检查证实为视网膜母细胞瘤(Rb),分化型。文章结合本世纪文献报道作过卵性诊断的Rb双生子共33对,计算出同卵双生患病一致率和Rb的遗传指数(76.56％);并就双生子卵别鉴定项目的可靠程度,“镜像”现象以及如何用Knudson的“二次突变”假说来解释同卵双生子发病一致性的问题,作了简要的讨论。

The Genetic and Clinical Studies in Twin Cases with Retinoblastoma

One pair of monozygotic twins with retinoblastoma, determined by blood grouping of RBC(ABO, MN, Rh, P), serum typing(Hp, Gc), EsD phenotyping and HLA typing(A, B, Cw), were reported. Both twin brothers showed the sign of "cat eye" at the age of 45 days, and the diagnosis of retinoblastoma was confirmed by pathological examination after their eyes were enucleated. According to the data of 33 pairs of twins with retinoblastoma collected from the literatures during this century, the concordance rate of Rb twins and genetic index of Rb (76.56%) were calculated. In addition, the reliability of determining zygosity and "mirror image" , the two-mutation hypothesis for cancer initiation suggested by Knudson were briefly discussed.