Clinical applications of gene probes in human genetic disease, malignancy, and infectious disease.

Recent developments in recombinant DNA technology have made possible the production of gene probes consisting of cloned gene segments, cloned segments of DNA linked to genes, and synthetic gene fragments. Several methods have been developed by which these probes may be used for the diagnosis of human disease. This technology has been outstandingly successful for prenatal diagnosis and carrier detection in many genetic diseases. These methods have also been successfully applied to the analysis of human malignancies, by providing for the determination of cell lineage and clonality in lymphoid neoplasms. Finally, these methods have shown potential for rapid and sensitive diagnosis of some infectious diseases.