Linardopoulos S, Gonos E S, Spandidos D A
Institute of Biological Research and Biotechnology, National Hellenic Research Foundation, Athens, Greece.
Cancer Lett. 1993 Jul 30;71(1-3):67-74. doi: 10.1016/0304-3835(93)90099-u.
The retinoblastoma (Rb) gene is associated with the pathogenesis of several types of human cancer, including retinoblastoma, osteosarcoma, soft tissue sarcomas, and lung, breast and bladder carcinomas. Loss of heterozygosity is a common mode in allelic inactivation of Rb and other tumor-suppressor genes. We investigated DNA from 15 human lung tumors for loss of heterozygosity of the Rb locus using a polymerase chain reaction (PCR) based restriction fragment length polymorphism assay. Of informative cases we found loss of heterozygosity in 2 out of 3 squamous cell carcinomas and 1 out of 2 adenocarcinomas of the lung. We also found structural rearrangements in two out of fourteen Hind III digested lung tumors examined at the 5' region of the human Rb gene using Southern blot hybridization analysis. Since these two tumors were classified as stage III it is possible that the alteration of Rb gene is involved in the progression of this type of cancer. Using specific primers for exons 15, 16, 21 and 22 of the Rb gene, we carried out amplification of these exons by polymerase chain reaction. None of these tumors showed a deletion of exons 15, 16, 21 and 22.
视网膜母细胞瘤（Rb）基因与多种人类癌症的发病机制相关，包括视网膜母细胞瘤、骨肉瘤、软组织肉瘤以及肺癌、乳腺癌和膀胱癌。杂合性缺失是Rb和其他肿瘤抑制基因等位基因失活的常见模式。我们使用基于聚合酶链反应（PCR）的限制性片段长度多态性分析，研究了15例人类肺癌肿瘤DNA中Rb基因座的杂合性缺失情况。在信息充分的病例中，我们发现3例肺鳞状细胞癌中有2例以及2例肺腺癌中有1例存在杂合性缺失。我们还使用Southern印迹杂交分析，在检测的14例经Hind III消化的肺肿瘤中，发现有2例在人类Rb基因5'区域存在结构重排。由于这两个肿瘤被归类为III期，Rb基因的改变可能参与了这类癌症的进展。我们使用Rb基因外显子15、16、21和22的特异性引物，通过聚合酶链反应对这些外显子进行扩增。这些肿瘤均未显示外显子15、16、21和22的缺失。
