Zhang J, Cui P, Glatfelter A A, Cummings L M, Meltzer P S, Trent J M
Laboratory of Cancer Genetics, National Center for Human Genome Research, NIH, Bethesda, Maryland 20892, USA.
Cancer Res. 1995 Oct 15;55(20):4640-5.
Chromosome translocations in human malignancies have identified the genomic location of several important growth-regulatory sequences (e.g., cellular oncogenes and suppressor genes). Melanomas are characterized by recurring chromosome alterations, including deletion or translocations of the long arm of chromosome 6 (6q). This report details our efforts to clone the t(1;6)(q21;q14) breakpoint in a malignant melanoma to further our understanding of the biology of these tumors. The strategy utilized combined microdissection of the translocation chromosome, development and characterization of a DNA microclone library, isolation of cosmids and YACs from the breakpoint region, ordering of clones by two-color metaphase/interphase fluorescence in situ hybridization, and finally, identification of a YAC spanning the translocation breakpoint. By analogy to other tumor systems, molecular examination of the chromosome 6 breakpoint may provide insight into the pathobiology of this important neoplasm.
人类恶性肿瘤中的染色体易位已确定了几个重要生长调节序列（如细胞癌基因和抑癌基因）的基因组位置。黑色素瘤的特征是反复出现染色体改变，包括6号染色体长臂（6q）的缺失或易位。本报告详细介绍了我们为克隆恶性黑色素瘤中t(1;6)(q21;q14)断点所做的努力，以加深我们对这些肿瘤生物学特性的理解。所采用的策略包括对易位染色体进行显微切割、构建和鉴定DNA微克隆文库、从断点区域分离黏粒和酵母人工染色体（YAC）、通过双色中期/间期荧光原位杂交对克隆进行排序，最后鉴定出一个跨越易位断点的YAC。类比其他肿瘤系统，对6号染色体断点进行分子检测可能有助于深入了解这种重要肿瘤的病理生物学特性。
