Dryja T P, Rapaport J M, Joyce J M, Petersen R A
Proc Natl Acad Sci U S A. 1986 Oct;83(19):7391-4. doi: 10.1073/pnas.83.19.7391.
DNA fragments from a locus spanning 29 kilobases within chromosome band 13q14 detected deletions in 3 retinoblastomas out of 37 such tumors examined. Somatically occurring, homozygous deletions spanning at least 25 kilobases were detected in retinoblastomas from two unrelated patients. These deletions are bounded by the esterase D locus proximally. In a third patient, both tumor cells and leukocytes have a deletion of one chromosome 13 homolog, with one end of the deletion localized to a 1.55-kilobase fragment within the cloned region. It is likely that the cloned locus is within a few hundred kilobases of the retinoblastoma gene (i.e., the locus governing predisposition to such tumors) and that the deletions detected also involve the retinoblastoma gene. Further, it may be possible to base a successful approach to the isolation of the retinoblastoma gene on this assumed physical proximity of the two loci.
在检测的37例视网膜母细胞瘤中,位于13号染色体13q14区带跨度为29千碱基的一个基因座的DNA片段,在3例此类肿瘤中检测到缺失。在两名不相关患者的视网膜母细胞瘤中检测到体细胞发生的、纯合缺失,跨度至少为25千碱基。这些缺失在近端以酯酶D基因座为界。在第三名患者中,肿瘤细胞和白细胞均有一条13号染色体同源染色体的缺失,缺失的一端定位于克隆区域内一个1.55千碱基的片段。克隆的基因座很可能位于视网膜母细胞瘤基因(即控制此类肿瘤易感性的基因座)的几百千碱基范围内,检测到的缺失也可能涉及视网膜母细胞瘤基因。此外,基于这两个基因座假定的物理接近性,有可能找到一种成功分离视网膜母细胞瘤基因的方法。