Bryndorf T, Christensen B, Vad M, Parner J, Carelli M P, Ward B E, Klinger K W, Bang J, Philip J
Chromosome Laboratory, Section of Clinical Genetics, Juliane Marie Centre, Rigshopitalet, Copenhagen, Denmark.
Am J Hum Genet. 1996 Oct;59(4):918-26.
We developed a 1-d FISH assay for detection of numerical chromosome abnormalities in uncultured chorionic villus samples (CVS). Probes specific for chromosomes 13, 18, 21, X, and Y were used to determine ploidy by analysis of signal number in hybridized nuclei. Aneuploidy detection using this assay was directly compared with the results obtained by conventional cytogenetic analysis in a consecutive, clinical study of 2,709 CVS and placental samples. The FISH assay yielded discrete differences in the signal profiles between cytogenetically normal and abnormal samples. On the basis of these results, we generated FISH-assay cutoff values that discriminated between karyotypically normal and aneuploid samples. Samples with mosaicism and a single sample with possible heritable small chromosome X probe target were exceptions and showed poor agreement between FISH results and conventional cytogenetics. We conclude that the FISH assay may act as a more accurate and less labor-demanding alternative to "direct" CVS analysis.
我们开发了一种一维荧光原位杂交（FISH）检测方法，用于检测未培养的绒毛膜绒毛样本（CVS）中的染色体数目异常。使用针对13号、18号、21号染色体以及X和Y染色体的特异性探针，通过分析杂交细胞核中的信号数量来确定倍性。在一项对2709份CVS和胎盘样本进行的连续临床研究中，将使用该检测方法进行非整倍体检测的结果与传统细胞遗传学分析所得结果进行了直接比较。FISH检测在细胞遗传学正常和异常样本的信号图谱上产生了明显差异。基于这些结果，我们生成了FISH检测的临界值，以区分核型正常和非整倍体样本。存在嵌合体的样本以及一个可能具有可遗传的小染色体X探针靶点的单个样本为例外情况，其FISH结果与传统细胞遗传学结果之间的一致性较差。我们得出结论，FISH检测可能是“直接”CVS分析的一种更准确且省力的替代方法。
