Yunis J J
Science. 1983 Jul 15;221(4607):227-36. doi: 10.1126/science.6336310.
High-resolution banding techniques for the study of human chromosomes have revealed that the malignant cells of most tumors analyzed have characteristic chromosomal defects. Translocations of the same chromosome segments with precise breakpoints occur in many leukemias and lymphomas, and a specific chromosome band is deleted in several carcinomas. Trisomy, or the occurrence of a particular chromosome in triplicate, is the only abnormality observed in a few neoplasias. It is proposed that chromosomal rearrangements play a central role in human neoplasia and may exert their effects through related genomic mechanisms. Thus, a translocation could serve to place an oncogene next to an activating DNA sequence, a deletion to eliminate an oncogene repressor, and trisomy to carry extra gene dosage.
用于研究人类染色体的高分辨率显带技术表明，大多数经分析的肿瘤恶性细胞都有特征性的染色体缺陷。许多白血病和淋巴瘤中会出现相同染色体片段的易位，且断点精确，在几种癌症中会出现特定染色体带的缺失。三体性，即某一特定染色体出现三条，是少数肿瘤中观察到的唯一异常情况。有人提出，染色体重排在人类肿瘤形成中起核心作用，可能通过相关的基因组机制发挥作用。因此，易位可能会使一个癌基因靠近一个激活的DNA序列，缺失会消除一个癌基因抑制因子，而三体性则会带来额外的基因剂量。
