title: Molecular pathology of single gene disorders.
abstract: Recent studies using recombinant DNA technology have led to an understanding of the basic molecular pathology of single gene disorders. Furthermore, methods are being developed for finding genes for conditions, whose underlying biochemistry is still not understood, or which may contribute to polygenic systems that underlie common diseases. As well as providing new approaches to carrier detection, prenatal diagnosis, and treatment of single gene disorders, these advances promise to provide important information about the pathophysiology of many common polygenic diseases.
authors.affiliation: Medical Research Council Molecular Haematology Unit, Nuffield Department of Clinical Medicine, John Radcliffe Hospital, Oxford.
authors.forename: D J
authors.initials: DJ
authors.lastname: Weatherall
mesh_terms: D002869:Chromosome Aberrations; D005786:Gene Expression Regulation; D005796:Genes; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D009154:Mutation; D013329:Structure-Activity Relationship