Busson Le Coniat M, Brizard F, Smadja N V, Maarek O, Der Sarkissian H, Berger R
Unité INSERM U 434, Paris, France.
Leukemia. 2000 Sep;14(9):1630-3. doi: 10.1038/sj.leu.2401876.
Cytogenetic and fluorescence in situ hybridization studies have shown the presence of telomeric repeats in translocation present in three patients with hematopoietic malignancies. One had jumping translocations, involving 1q12 and 2q, 16p, and 19q. These sequences were detected by FISH only in derivative chromosomes t(1;16) and t(1;19) in the first patient, and t(1;7) in the second. They were not seen in derivative t(1;2) and t(7;8), respectively. Interstitial telomeric sequences were observed in der(2)t(1;2) in about half of the metaphases in the third patient. The instability of interstitial telomeric DNA repeats in translocations is shown by the present findings. Moreover it supports the hypothesis that the presence of interstitial telomere repeats is not sufficient to make it functional.
细胞遗传学和荧光原位杂交研究表明，在三名造血系统恶性肿瘤患者中存在的易位中存在端粒重复序列。其中一名患者有跳跃易位，涉及1q12和2q、16p和19q。这些序列仅在第一名患者的衍生染色体t(1;16)和t(1;19)以及第二名患者的t(1;7)中通过荧光原位杂交检测到。它们分别未在衍生的t(1;2)和t(7;8)中出现。在第三名患者约一半的中期相中，在der(2)t(1;2)中观察到了间质端粒序列。目前的研究结果表明了易位中间质端粒DNA重复序列的不稳定性。此外，这支持了间质端粒重复序列的存在不足以使其发挥功能这一假说。
