Jacky P B, Dill F J
Ann Genet. 1983;26(3):171-3.
The effect of chromosome condensation on the frequency of expression of the fragile X chromosome was examined. Chromosome decondensation substances were tested for their ability to elicit expression or improve frequencies of expression of the fragile X chromosome in five patients. The substances tested included the AT specific DNA ligands ethidium bromide, Hoechst 33258, and netropsin, and the GC specific substances actinomycin D and olivomycin. Under culture conditions appropriate for eliciting fragile X expression none of the decondensation compounds studied significantly altered frequencies of expression, nor did any of the substances elicit fragile X expression under conditions that normally suppress fragile X expression. The fragile X was found to be more frequently evident in less condensed chromosome preparations from fibroblasts. The implications of these findings with respect to the nature of fragile sites are discussed.
研究了染色体凝聚对脆性X染色体表达频率的影响。对五种染色体解凝聚物质进行了测试,以检测它们引发脆性X染色体表达或提高其表达频率的能力。所测试的物质包括AT特异性DNA配体溴化乙锭、Hoechst 33258和纺锤菌素,以及GC特异性物质放线菌素D和橄榄霉素。在适合引发脆性X表达的培养条件下,所研究的解凝聚化合物均未显著改变表达频率,且在通常抑制脆性X表达的条件下,也没有任何一种物质能引发脆性X表达。在来自成纤维细胞的染色体凝聚程度较低的制备物中,发现脆性X更常见。讨论了这些发现对于脆性位点性质的意义。