Verkerk A J, deVries B B, Niermeijer M F, Fu Y H, Nelson D L, Warren S T, Majoor-Krakauer D F, Halley D J, Oostra B A
Department of Clinical Genetics, University Hospital Dijkzigt, The Netherlands.
Am J Med Genet. 1992;43(1-2):192-6. doi: 10.1002/ajmg.1320430132.
The intragenic (FMR-1) probe pE5.1 was used for DNA analysis in fragile X families. With this probe fragments of altered size can be detected in female carriers, affected individuals and transmitting males. The length of the altered fragments was found to vary from one generation to another as well as between sibs. This instability of the DNA detected by pE5.1 was also seen in peripheral blood within single individuals. These phenomena are illustrated by 4 exemplary families segregating the fragile X syndrome. We demonstrate the diagnostic contribution of intragenic analysis to carrier detection as well as the identification of normal transmitting males carrying premutations. One of the families illustrates the passage of a premutation to a male through 2 generations.
基因内（FMR-1）探针pE5.1用于脆性X家族的DNA分析。使用该探针可在女性携带者、患病个体和传递男性中检测到大小改变的片段。发现改变片段的长度在不同代之间以及同胞之间都有所不同。pE5.1检测到的DNA这种不稳定性在单个个体的外周血中也可见。4个分离脆性X综合征的典型家族说明了这些现象。我们证明了基因内分析对携带者检测以及携带前突变的正常传递男性的鉴定的诊断作用。其中一个家族说明了前突变通过两代传递给一名男性的情况。
