Piper J, Fantes J, Gosden J, Ji L A
MRC Human Genetics Unit, Edinburgh, Scotland.
Cytometry. 1990;11(1):73-9. doi: 10.1002/cyto.990110109.
In order to score for the fragile X syndrome, blood samples are prepared with absorption stain labeling by in situ hybridisation of the X chromosome centromeres. Metaphases are located, digitised at high resolution, and segmented fully automatically. A three stage adaptive classification scheme for labeled X chromosomes is then applied. This consists of a simple box classifier to identify plausible X and false positive X chromosomes, followed by a quadratic discriminant classifier that is re-trained for each sample. The modal number of X chromosomes is then determined for each sample and used to refine the classification. A simple fragile site detector is applied to the distal portion of the detected X chromosome long arms. From the results we estimate computer and operator time requirements for a screening system in which the operator reviews only the apparently fragile X chromosomes detected by the computer.
为了对脆性X综合征进行评分，通过X染色体着丝粒的原位杂交，用吸收染色标记法制备血样。找到中期细胞，以高分辨率进行数字化处理，并完全自动分割。然后应用一种针对标记的X染色体的三阶段自适应分类方案。这包括一个简单的盒式分类器，用于识别可能的X染色体和假阳性X染色体，接着是一个二次判别分类器，该分类器针对每个样本重新训练。然后为每个样本确定X染色体的众数，并用于完善分类。将一个简单的脆性位点检测器应用于检测到的X染色体长臂的远端部分。根据结果，我们估计了一个筛查系统的计算机和操作员时间需求，在该系统中，操作员只查看计算机检测到的明显的脆性X染色体。
