Kuo W L, Tenjin H, Segraves R, Pinkel D, Golbus M S, Gray J
Biomedical Sciences Division, Lawrence Livermore National Laboratory, Livermore, CA 94551.
Am J Hum Genet. 1991 Jul;49(1):112-9.
Fluorescence in situ hybridization (FISH) with chromosome-specific probes has been applied to detection of numerical aberrations involving chromosomes 13, 18, and 21 in metaphase and interphase amniocytes. High-complexity, composite probes for chromosomes 13, 18, and 21 were used as hybridization probes for this study. These probes were constructed as chromosome-specific libraries in Bluescribe plasmids and are designated pBS-13, pBS-18, and pBS-21. Elements of these probes bind at numerous sites along the target chromosome and, when detected fluorescently, stain essentially the entire long arm of the target chromosome. The target chromosome number (i.e., the number of chromosomes of the type for which the probe was specific) was correctly determined in 20 of 20 samples in which metaphase spreads were analyzed and in 43 of 43 samples in which interphase nuclei were analyzed; all of these studies were conducted in blind fashion. These results suggest the utility of FISH with composite probes for rapid detection of numerical aberrations in metaphase and interphase amniotic cells.
使用染色体特异性探针的荧光原位杂交（FISH）已应用于检测中期和间期羊膜细胞中涉及13号、18号和21号染色体的数目畸变。本研究使用针对13号、18号和21号染色体的高复杂性复合探针作为杂交探针。这些探针构建为蓝噬菌斑质粒中的染色体特异性文库，并命名为pBS - 13、pBS - 18和pBS - 21。这些探针的元件沿着目标染色体的多个位点结合，当用荧光检测时，基本上会使目标染色体的整个长臂染色。在分析中期铺展的20个样本中的20个以及分析间期细胞核的43个样本中的43个中，目标染色体数目（即探针所特异性针对的染色体类型的数目）均被正确确定；所有这些研究均以盲法进行。这些结果表明，使用复合探针的FISH对于快速检测中期和间期羊膜细胞中的数目畸变具有实用性。
