Haataja L, Raffel C, Ledbetter D H, Tanigami A, Petersen D, Heisterkamp N, Groffen J
Department of Pathology, Children's Hospital of Los Angeles Research Institute, California 90027, USA.
Cancer Res. 1997 Jan 1;57(1):32-4.
Loss of heterozygosity on chromosome 17p13.3 is frequently observed in solid tumors, and the presence of a tumor suppressor gene has been predicted in this region of chromosome 17. We have analyzed a primitive neuroectodermal tumor sample exhibiting loss of heterozygosity at the D17S34 locus, a commonly used telomeric marker on the short arm of chromosome 17. The remaining allele showed a rearrangement. Cosmids spanning the D17S34 locus and probes from that region were used to demonstrate a 9-kb deletion within the D17S34 locus and were found to contain evolutionary, conserved sequences. Genetic alterations in this region may also affect expression of immediately adjacent genes, such as ABR, and could be a common mechanism in the causation of primitive neuroectodermal tumors.
17号染色体短臂13.3区域杂合性缺失在实体瘤中经常被观察到，并且已经预测在17号染色体的这个区域存在一个肿瘤抑制基因。我们分析了一个原始神经外胚层肿瘤样本，该样本在D17S34位点表现出杂合性缺失，D17S34是17号染色体短臂上常用的端粒标记。剩余的等位基因显示出重排。跨越D17S34位点的黏粒和来自该区域的探针被用于证明D17S34位点内有一个9kb的缺失，并且发现其包含进化上保守的序列。该区域的基因改变也可能影响紧邻基因如ABR的表达，并且可能是原始神经外胚层肿瘤发生的一个常见机制。
