视网膜母细胞瘤基因缺失断点处的短而直接的重复序列。
Short, direct repeats at the breakpoints of deletions of the retinoblastoma gene.
作者信息
Canning S, Dryja T P
机构信息
Howe Laboratory of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston.
出版信息
Proc Natl Acad Sci U S A. 1989 Jul;86(13):5044-8. doi: 10.1073/pnas.86.13.5044.
Abstract
We found deletions involving the retinoblastoma gene in 12 of 49 tumors from patients with retinoblastoma or osteosarcoma. After mapping the deletion breakpoints, we found that no two breakpoints coincided. Thus, our data do not support the conclusions of others regarding the existence of a "hotspot" for deletion breakpoints in this gene. In 4 of the tumors, we sequenced 200 base pairs surrounding each deletion breakpoint. Three deletions had termini within pairs of short, direct repeats ranging in size from 4 to 7 base pairs. These results indicate that the "slipped mispairing" mechanism may predominate in the generation of deletions at this locus. Our review of deletion breakpoints at other genetic loci reveals that the nature of the sequences present at deletion breakpoints (short, direct repeats versus middle repetitive elements) varies according to the genetic locus under study.
摘要
我们在49例视网膜母细胞瘤或骨肉瘤患者的肿瘤中，发现12例存在涉及视网膜母细胞瘤基因的缺失。在确定缺失断点的位置后，我们发现没有两个断点是重合的。因此，我们的数据不支持其他人关于该基因缺失断点存在“热点”的结论。在4例肿瘤中，我们对每个缺失断点周围200个碱基对进行了测序。其中3个缺失的末端位于长度为4至7个碱基对的短直接重复序列对中。这些结果表明，“滑动错配”机制可能在该位点缺失的产生中占主导地位。我们对其他基因位点缺失断点的研究表明，缺失断点处存在的序列性质（短直接重复序列与中等重复元件）因所研究的基因位点而异。
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