Krassikoff N E, Cowan J M, Parry D M, Francke U
Am J Hum Genet. 1986 Nov;39(5):618-30.
Different cell types from a female patient with Roberts/SC phocomelia syndrome were evaluated quantitatively for the presence of repulsion of heterochromatin and satellite regions of mitotic chromosomes. Whereas EBV-transformed lymphoblasts from an established cell line revealed these phenomena at frequencies equal to those in PHA-stimulated lymphocytes and cultured skin fibroblasts, aneuploid cells from a metastatic melanoma displayed them at 50% lower frequency. Cocultivation of the patient's fibroblasts with either an immortal Chinese hamster cell line or with a human male fibroblast strain carrying a t(4;6)(p14;q21) translocation showed that the phenomenon was not corrected or induced by a diffusible factor or by cell-to-cell contact. In each experiment, only the patient's metaphase spreads revealed chromatid repulsion. In fusion hybrids between the patient's fibroblasts and an established Chinese hamster cell line, the human chromosomes behaved perfectly normally, suggesting that the gene product which is missing or mutant in Roberts/SC phocomelia syndrome is supplied by the Chinese hamster genome.
对一名患有罗伯茨/ SC短肢畸形综合征的女性患者的不同细胞类型进行了定量评估，以确定有丝分裂染色体的异染色质和卫星区域是否存在排斥现象。虽然来自已建立细胞系的EBV转化淋巴细胞显示这些现象的频率与PHA刺激的淋巴细胞和培养的皮肤成纤维细胞中的频率相同，但转移性黑色素瘤的非整倍体细胞显示这些现象的频率低50%。将患者的成纤维细胞与永生的中国仓鼠细胞系或携带t(4;6)(p14;q21)易位的人类男性成纤维细胞系共培养，结果表明该现象不会因可扩散因子或细胞间接触而得到纠正或诱导。在每个实验中，只有患者的中期染色体铺展显示出染色单体排斥。在患者的成纤维细胞与已建立的中国仓鼠细胞系之间的融合杂种中，人类染色体表现完全正常，这表明罗伯茨/ SC短肢畸形综合征中缺失或突变的基因产物由中国仓鼠基因组提供。
