Barr F G, Holick J, Nycum L, Biegel J A, Emanuel B S
Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Pennsylvania.
Genomics. 1992 Aug;13(4):1150-6. doi: 10.1016/0888-7543(92)90030-v.
A characteristic translocation t(2;13)(q35;q14) has been previously identified in the pediatric soft tissue tumor alveolar rhabdomyosarcoma. We have assembled a panel of lymphoblast, fibroblast, and somatic cell hybrid cell lines with deletions and unbalanced translocations involving chromosome 2 to develop a physical map of the distal 2q region. Twenty-two probes were localized on this physical map by Southern blot analysis of the mapping panel. The position of these probes with respect to the t(2;13) rhabdomyosarcoma breakpoint was then determined by quantitative Southern blot analysis of an alveolar rhabdomyosarcoma cell line with two copies of the derivative chromosome 13 and one copy of the derivative chromosome 2 and by analysis of somatic cell hybrid clones derived from an alveolar rhabdomyosarcoma cell line. We demonstrate that the t(2;13) breakpoint is situated within a map interval delimited by the distal deletion breakpoint in fibroblast line GM09892 and the t(X;2) breakpoint in somatic cell hybrid GM11022. Furthermore, from a comparison of our data with the linkage map of the syntenic region on mouse chromosome 1, we conclude that the t(2;13) breakpoint is most closely flanked by loci INHA and ALPI within this map interval.
一种特征性的易位t(2;13)(q35;q14)先前已在儿童软组织肿瘤肺泡状横纹肌肉瘤中被鉴定出来。我们构建了一组淋巴母细胞、成纤维细胞以及具有涉及2号染色体缺失和不平衡易位的体细胞杂交细胞系,以绘制2q远端区域的物理图谱。通过对该图谱构建组进行Southern印迹分析,将22个探针定位在这一物理图谱上。然后,通过对具有两条衍生13号染色体拷贝和一条衍生2号染色体拷贝的肺泡状横纹肌肉瘤细胞系进行定量Southern印迹分析,以及对源自肺泡状横纹肌肉瘤细胞系的体细胞杂交克隆进行分析,确定这些探针相对于t(2;13)横纹肌肉瘤断裂点的位置。我们证明,t(2;13)断裂点位于成纤维细胞系GM09892中的远端缺失断裂点和体细胞杂交体GM11022中的t(X;2)断裂点所界定的图谱区间内。此外,通过将我们的数据与小鼠1号染色体上同区域的连锁图谱进行比较,我们得出结论,在该图谱区间内,t(2;13)断裂点最靠近INHA和ALPI基因座。