Obe G, Pfeiffer P, Savage J R K, Johannes C, Goedecke W, Jeppesen P, Natarajan A T, Martínez-López W, Folle G A, Drets M E
University of Essen, Department of Genetics, Essen, Germany.
Mutat Res. 2002 Jul 25;504(1-2):17-36. doi: 10.1016/s0027-5107(02)00076-3.
Chromosomal aberrations (CA) are the microscopically visible part of a wide spectrum of DNA changes generated by different repair mechanisms of DNA double strand breaks (DSB). The method of fluorescence in situ hybridisation (FISH) has uncovered unexpected complexities of CA and this will lead to changes in our thinking about the origin of CA. The inter- and intrachromosomal distribution of breakpoints is generally not random. CA breakpoints occur preferentially in active chromatin. Deviations from expected interchromosomal distributions of breakpoints may result from the arrangement of chromosomes in the interphase nucleus and/or from different sensitivities of chromosomes with respect to the formation of CA. Telomeres and interstitial telomere repeat like sequences play an important role in the formation of CA. Subtelomeric regions are hot spots for the formation of symmetrical exchanges between homologous chromatids and cryptic aberrations in these regions are associated with human congenital abnormalities.
染色体畸变（CA）是由DNA双链断裂（DSB）的不同修复机制产生的广泛DNA变化中显微镜下可见的部分。荧光原位杂交（FISH）方法揭示了CA意想不到的复杂性，这将导致我们对CA起源的认识发生变化。断点的染色体间和染色体内分布通常不是随机的。CA断点优先出现在活性染色质中。与预期的染色体间断点分布的偏差可能是由于染色体在间期核中的排列和/或由于染色体对CA形成的不同敏感性。端粒和间质性端粒重复样序列在CA的形成中起重要作用。亚端粒区域是同源染色单体之间对称交换形成的热点，这些区域的隐匿性畸变与人类先天性异常有关。
