Gilgenkrantz S, Chery M, Teboul M, Mujica P, Leotard B, Gregoire M J, Boman F, Duprez A, Hanauer A
Centre Régional de Transfusion Sanguine, Université de Nancy, Vandoeuvre-les-Nancy, France.
Oncogene. 1990 Jul;5(7):1063-6.
A specific translocation between chromosomes X and 18 was identified in synovial sarcomas. From a girl with synovial sarcoma, we isolated two clones with t(X; 18)(p11.2; q11.2) and which had lost the normal X chromosome. Southern blot analysis of DNA from the tumor, the patient and her parents demonstrated that the normal X chromosome, lost in the tumor, was the paternal one. A somatic hybrid cell line was established by fusing tumor cells (after passages on athymic mice) to an HPRT deficient hamster cell line. By cytogenetic, in situ hybridization and molecular analysis, it was found to contain the derivative (X) chromosome in the absence of the der (18) chromosome. To determine the position of the breakpoint on the X chromosome, Southern blots of DNA from this hybrid were hybridized to [32P]-labelled X chromosome probes. DXS146 and DXS255 were retained in the hybrid cell line whereas GAPDP1, the ARAF1 and TIMP proto-oncogenes were not present, indicating that the breakpoint lies proximal to GAPD1, ARAF1 and TIMP and distal to DXS255 and DXS146. Results obtained from other authors are compared. Further studies will be necessary to determine the extent of variation of the breakpoint in different tumors.
在滑膜肉瘤中发现了X染色体和18号染色体之间的一种特定易位。从一名患有滑膜肉瘤的女孩身上，我们分离出了两个具有t(X; 18)(p11.2; q11.2)且丢失了正常X染色体的克隆。对肿瘤、患者及其父母的DNA进行Southern印迹分析表明，肿瘤中丢失的正常X染色体是父源的。通过将肿瘤细胞（在无胸腺小鼠传代后）与一株HPRT缺陷的仓鼠细胞系融合，建立了一个体细胞杂交细胞系。通过细胞遗传学、原位杂交和分子分析，发现该细胞系含有衍生的(X)染色体，而没有der(18)染色体。为了确定X染色体上断点的位置，将该杂交细胞的DNA的Southern印迹与[32P]标记的X染色体探针杂交。DXS146和DXS255保留在杂交细胞系中，而GAPDP1、ARAF1和TIMP原癌基因不存在，这表明断点位于GAPD1、ARAF1和TIMP的近端，DXS255和DXS146的远端。比较了其他作者获得的结果。需要进一步研究以确定不同肿瘤中断点变异的程度。
