Fantes J, Gosden J, Piper J
MRC Human Genetics Unit, Edinburgh, Scotland, UK.
Cytogenet Cell Genet. 1988;48(3):142-7. doi: 10.1159/000132611.
An alphoid DNA sequence primarily located on the X chromosome was labeled with biotin and hybridized in situ to preparations of metaphase chromosomes derived from fragile X-affected individuals; hybridization sites were detected immunologically. Labeled X chromosomes were located automatically in digitized images of metaphase cells by searching for the concurrence of a pronounced peak in the longitudinal density profile with the centromere in medium-sized chromosomes having a suitable centromeric index. Approximately 70% of the X chromosomes were detected by a simple classifier; this rate is similar to the automatic classification rate obtained with G-banded metaphases. The frequency of detection of the fragile X site obtained when scored directly from the microscope using this new preparation technique did not differ significantly from the frequency obtained in the same sample by means of a conventional technique. The frequency obtained by visual scoring of digitized images was slightly higher, but not significantly so.
一个主要位于X染色体上的α卫星DNA序列用生物素标记，并原位杂交到来自脆性X综合征患者的中期染色体标本上；通过免疫方法检测杂交位点。在中期细胞的数字化图像中，通过寻找纵向密度分布中明显峰值与具有合适着丝粒指数的中等大小染色体着丝粒的重合，自动定位标记的X染色体。大约70%的X染色体可通过一个简单的分类器检测到；这个比率与用G带中期染色体获得的自动分类率相似。使用这种新的制备技术直接在显微镜下评分时获得的脆性X位点检测频率，与同一样本通过传统技术获得的频率没有显著差异。通过对数字化图像进行视觉评分获得的频率略高，但不显著。
