Sumner A T, Mitchell A R, Ellis P M
MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK.
J Med Genet. 1998 Oct;35(10):833-5. doi: 10.1136/jmg.35.10.833.
We have used double fluorescence in situ hybridisation to study the involvement of centromeres and paracentromeric heterochromatin in the chromosome abnormalities seen in the ICF syndrome. To detect centromeres, we used a probe which labelled alphoid satellite DNA, and for the paracentromeric heterochromatin a probe for classical satellite II. Our results show that it is always the paracentromeric heterochromatin of the relevant chromosomes that becomes decondensed in this syndrome and which fuses to produce multiradial configurations. However, the centromeric regions, identified by their content of alphoid satellite DNA, appear never to become decondensed and always remain outside the regions of chromosome fusion in the multiradials.
我们运用双重荧光原位杂交技术，研究着丝粒和近着丝粒异染色质在ICF综合征所呈现的染色体异常中的作用。为检测着丝粒，我们使用了标记α卫星DNA的探针；对于近着丝粒异染色质，则使用了经典卫星II的探针。我们的研究结果表明，在该综合征中，相关染色体的近着丝粒异染色质总是发生解聚，并融合形成多径向构型。然而，由α卫星DNA含量所确定的着丝粒区域，似乎从未发生解聚，并且在多径向结构中始终处于染色体融合区域之外。
