Recombinant DNA technology and its diagnostic applications

Abstract

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.