Sullivan B A, Jenkins L S, Karson E M, Leana-Cox J, Schwartz S
Department of Genetics and Center for Human Genetics, Case Western Reserve University, Cleveland OH 44106, USA.
Am J Hum Genet. 1996 Jul;59(1):167-75.
Most Robertsonian translocations are dicentric, suggesting that the location of chromosomal breaks leading to their formation occur in the acrocentric short arm. Previous cytogenetic and molecular cytogenetic studies have shown that few Robertsonian translocations retain ribosomal genes or beta-satellite DNA. Breakpoints in satellite III DNA, specifically between two chromosome 14-specific subfamilies, pTRS-47 and pTRS-63, have been indicated for most of the dicentric 14q21q and 13q14q translocations that have been studied. We have analyzed the structure of 36 dicentric translocations, using several repetitive DNA probes that localize to the acrocentric short arm. The majority of the translocations retained satellite III DNA, while others proved variable in structure. Of 10 14q21q translocations analyzed, satellite III DNA was undetected in 1; 6 retained one satellite III DNA subfamily, pTRS-47; and 3 appeared to contain two 14-specific satellite III DNA sub-families, pTRS-47 and pTRS-63. In 10/11 translocations involving chromosome 15, the presence of satellite III DNA was observed. Our results show that various regions of the acrocentric short arm, and, particularly, satellite III DNA sequences, are involved in the formation of Robertsonian translocations.
大多数罗伯逊易位是双着丝粒的，这表明导致其形成的染色体断裂位置发生在近端着丝粒短臂上。先前的细胞遗传学和分子细胞遗传学研究表明，很少有罗伯逊易位保留核糖体基因或β卫星DNA。对于大多数已研究的双着丝粒14q21q和13q14q易位，已指出卫星III DNA中的断点，特别是在两个14号染色体特异性亚家族pTRS - 47和pTRS - 63之间。我们使用了几种定位于近端着丝粒短臂的重复DNA探针，分析了36个双着丝粒易位的结构。大多数易位保留了卫星III DNA，而其他易位的结构则有所不同。在分析的10个14q21q易位中，有1个未检测到卫星III DNA；6个保留了一个卫星III DNA亚家族pTRS - 47；3个似乎包含两个14号染色体特异性卫星III DNA亚家族pTRS - 47和pTRS - 63。在11个涉及15号染色体的易位中，有10个观察到卫星III DNA的存在。我们的结果表明，近端着丝粒短臂的各个区域，特别是卫星III DNA序列，参与了罗伯逊易位的形成。
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