Screening for genetic diseases with molecular probes

Abstract

Over 500 human genes have now been cloned. The study of many of these has greatly improved our knowledge of the causes of certain genetic diseases, and our ability to diagnose them. The linkage of random polymorphic DNA probes has also aided the mapping of disease loci, and the diagnosis of human pathology. In some cases linkage may prove to be the starting point for the isolation of genes causing disease where the biochemical defect is not characterised. This review looks at the impact of recombinant DNA technology on the study of human genetic disease.