Loda M
Deaconess Hospital, Department of Pathology, Boston, MA 02215.
Hum Pathol. 1994 Jun;25(6):564-71. doi: 10.1016/0046-8177(94)90220-8.
Altered expression of oncogenes and tumor suppressor genes, the normal function of which is to regulate cell growth and differentiation, represents a central event in the pathogenesis of human cancer. Aberrant expression of these genes is often a result of a mutational event. In vitro amplification of DNA with the polymerase chain reaction (PCR) has enormously increased the sensitivity of the methods to detect mutations. These PCR-based techniques have thus become invaluable in the elucidation of the mechanisms of carcinogenesis as well as in molecular genetics. In addition, the precise definition of a mutation at the molecular level can be a very valuable adjunct to the diagnosis and classification of malignancies as well as to their prognostic assessment. In this article several PCR-based strategies are outlined, their applicability in the detection of different types of mutations is discussed, and finally the application of these techniques in fresh and archival tissues is presented.
癌基因和肿瘤抑制基因的表达改变是人类癌症发病机制中的核心事件，其正常功能是调节细胞生长和分化。这些基因的异常表达通常是突变事件的结果。利用聚合酶链反应（PCR）在体外扩增DNA极大地提高了检测突变方法的灵敏度。因此，这些基于PCR的技术在阐明致癌机制以及分子遗传学方面变得非常宝贵。此外，在分子水平上对突变的精确定义对于恶性肿瘤的诊断、分类及其预后评估而言可能是非常有价值的辅助手段。本文概述了几种基于PCR的策略，讨论了它们在检测不同类型突变中的适用性，最后介绍了这些技术在新鲜组织和存档组织中的应用。
