Schmidt M, Du Sart D, Kalitsis P, Leversha M, Dale S, Sheffield L, Toniolo D
Murdoch Institute, VCGS, Royal Children's Hospital, Melbourne, Australia.
Hum Genet. 1991 Mar;86(5):519-21. doi: 10.1007/BF00194646.
We have analysed two duplications of the X chromosome in male patients using chromosome replication and DNA methylation patterns as determinants of the functional status of the duplicated segments. In both cases, the large duplicated regions, Xq12-q22 and Xq26.3-qter, were not inactivated. A review of previously reported male cases revealed that these duplications were also not subject to inactivation. Taken together, the examined duplications cover almost the entire X chromosome except the pericentromeric region and Xq25-26. Thus, most regions of the X chromosome can be present in two functional copies without lethal consequences.
我们利用染色体复制和DNA甲基化模式作为重复片段功能状态的决定因素，对男性患者的两条X染色体重复进行了分析。在这两个病例中，大的重复区域，即Xq12-q22和Xq26.3-qter，并未失活。对先前报道的男性病例的回顾显示，这些重复也未发生失活。综上所述，所检测的重复几乎覆盖了整个X染色体，除了着丝粒周围区域和Xq25-26。因此，X染色体的大多数区域可以以两个功能拷贝的形式存在而不产生致命后果。
