The application of DNA recombinant technology to the analysis of the human genome and genetic disease.

Recombinant DNA technology permits the isolation of libraries of DNA sequences corresponding to either the whole genome of an individual or the expressed sequences of a given cell type. Gene-specific probes isolated from these libraries may be used for the identification of DNA sequences in the genome necessary for normal gene function and for the study of the consequences of mutations and rearrangements in these sequences which give rise to the clinical symptoms in genetic disease. DNA sequence polymorphisms can be used to construct a genetic linkage map of the entire human genome. This allows the development of antenatal diagnoses for monogenic diseases even in the absence of an understanding of the biochemical defect.