Arends M J, Bird C C
Department of Pathology, University Medical School, Edinburgh, Scotland, UK.
Histopathology. 1992 Oct;21(4):303-13. doi: 10.1111/j.1365-2559.1992.tb00400.x.
As yet recombinant DNA technology does not appear to have widespread diagnostic application in pathology. However, it does have a useful role to play in specific circumstances in at least three main areas: a it can provide precise diagnostic information about genetic diseases, allowing appropriate counselling, and indicating future directions for research on therapeutic intervention, e.g. gene therapy; b micro-organisms can be identified more sensitively and specifically, in fresh or fixed tissue samples, and their genomes can be analysed in fine detail, providing information relevant to the aetiology, epidemiology and pathogenesis of many diseases; c in tumour pathology the main application so far has been to resolve diagnostic problems associated with leukaemias and lymphomas, when other diagnostic procedures have been inconclusive. Specific chromosomal translocations, involving recognized genes, are particularly amenable to diagnosis by these means. Diagnostic applications to solid tumours are yet to be identified, although significant insights into tumorigenesis have been obtained, and these may ultimately lead to the development of useful markers for prognostic and therapeutic purposes.
迄今为止，重组DNA技术似乎尚未在病理学中得到广泛的诊断应用。然而，它在至少三个主要领域的特定情况下确实发挥着有用的作用：a它可以提供有关遗传疾病的精确诊断信息，从而进行适当的咨询，并为治疗干预（如基因治疗）的研究指明未来方向；b可以在新鲜或固定的组织样本中更灵敏、更特异地鉴定微生物，并对其基因组进行详细分析，提供与许多疾病的病因、流行病学和发病机制相关的信息；c在肿瘤病理学中，到目前为止主要的应用是解决与白血病和淋巴瘤相关的诊断问题，当其他诊断程序尚无定论时。涉及已知基因的特定染色体易位尤其适合通过这些方法进行诊断。尽管已经获得了对肿瘤发生的重要见解，并且这些见解最终可能会导致开发用于预后和治疗目的的有用标志物，但尚未确定对实体瘤的诊断应用。
