MOLECULAR-DETECTION OF DELETIONS INVOLVING BAND Q14 OF CHROMOSOME-13 IN RETINOBLASTOMAS
MOLECULAR-DETECTION OF DELETIONS INVOLVING BAND Q14 OF CHROMOSOME-13 IN RETINOBLASTOMAS
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DOI：
10.1073/pnas.83.19.7391
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发表时间：
1986-10-01
影响因子：
11.1
通讯作者：
PETERSEN, RA
中科院分区：
文献类型：
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作者：
DRYJA, TP;RAPAPORT, JM;PETERSEN, RA
在37例视网膜母细胞瘤中，有3例检测到染色体13 q14区29个碱基缺失。体细胞发生，纯合子缺失跨越至少25个酶检测视网膜母细胞瘤从两个无关的患者。这些缺失由酯酶D位点近端界定。在第三个患者中，肿瘤细胞和白细胞都有一个13号染色体同源物的缺失，缺失的一端位于克隆区域内的1.55-内切酶片段。克隆的基因座可能在视网膜母细胞瘤基因的几百个碱基内（即，控制对这种肿瘤的易感性的基因座），并且检测到的缺失也涉及成视网膜细胞瘤基因。此外，基于这两个基因座的假定物理接近性，可能成功地分离成视网膜细胞瘤基因。
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.