Meltzer P S, Guan X Y, Trent J M
University of Michigan, Department of Radiation, Ann Arbor 48109-0668.
Nat Genet. 1993 Jul;4(3):252-5. doi: 10.1038/ng0793-252.
Terminal deletions are found frequently in both malignancies and clinically recognizable deletion syndromes in man. Little is known, particularly in cancer, of the specific mechanisms which lead to the generation of deleted chromosomes or the process by which these broken chromosomes are stabilized. We demonstrate that several examples of apparent terminal deletions are, in fact, subtelomeric translocations which were not detectable using conventional cytogenetics. The unexpectedly high frequency of this phenomenon and the diversity of partner chromosomes involved in the subtelomeric translocations is consistent with a model in which telomere capture can stabilize chromosome breakage in man.
末端缺失在人类恶性肿瘤和临床上可识别的缺失综合征中都很常见。对于导致缺失染色体产生的具体机制，尤其是在癌症中，以及这些断裂染色体得以稳定的过程，我们知之甚少。我们证明，实际上有几个明显的末端缺失例子是亚端粒易位，使用传统细胞遗传学方法无法检测到。这种现象出乎意料的高频率以及参与亚端粒易位的伙伴染色体的多样性，与端粒捕获可以稳定人类染色体断裂的模型一致。
