Darbary Huferesh K, Dutt Smitha S, Sait Sheila J, Nowak Norma J, Heinaman Roy E, Stoler Daniel L, Anderson Garth R
Department of Cancer Biology, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, NY 14263, USA.
Cancer Genet Cytogenet. 2009 Mar;189(2):77-86. doi: 10.1016/j.cancergencyto.2008.10.011.
Our previous allelotyping studies of 59 sporadic colorectal cancers revealed that loss of heterozygosity is most frequent for regions of chromosomes 14 and 18. Yet subsequent BAC microarray comparative genomic hybridization studies of the same tumor DNAs showed no corresponding pattern of copy number alteration for chromosome 14. To clarify this apparent discrepancy, we utilized hybridization to SNP microarrays; this revealed frequent uniparentalism for chromosome 14 and for chromosome 18. Based on the BAC array results combined with fluorescent in situ hybridization data, it was evident that uniparental disomy was occurring in many colorectal cancers as well as in additional chromosomes, and often coordinately involved chromosomes 14 and 18. Further studies examined the possibility that uniparentalism was directed towards the selection for imprinted genes, but no association with imprinting was observed.
我们之前对59例散发性结直肠癌进行的等位基因分型研究表明,14号和18号染色体区域的杂合性缺失最为常见。然而,随后对相同肿瘤DNA进行的BAC微阵列比较基因组杂交研究显示,14号染色体不存在相应的拷贝数改变模式。为了阐明这一明显的差异,我们利用了与SNP微阵列的杂交技术;这揭示了14号和18号染色体频繁出现单亲二体现象。基于BAC阵列结果并结合荧光原位杂交数据,很明显单亲二体现象在许多结直肠癌以及其他染色体中都有发生,并且常常同时涉及14号和18号染色体。进一步的研究探讨了单亲二体现象是否针对印记基因的选择,但未观察到与印记的关联。