title: Molecular genetic approaches to the analysis and diagnosis of human inherited disease: an overview.
abstract: The advent of recombinant DNA technology has contributed enormously to our understanding of human genome pathology. In this review, current approaches to the analysis and diagnosis of human genetic disease are presented and their contribution to diagnostic medicine assessed. At the level of the gene, the nonrandom nature of human gene mutation is described and the role of the local DNA sequence environment explored.
authors.affiliation: Charter Molecular Genetics Laboratory, University of London, U.K.
authors.forename: D N
authors.initials: DN
authors.lastname: Cooper
authors.forename: J
authors.initials: J
authors.lastname: Schmidtke
mesh_terms: D000328:Adult; D015152:Blotting, Northern / Q000379:methods; D015139:Blotting, Southern / Q000379:methods; D002648:Child; D002872:Chromosome Deletion; D003001:Cloning, Molecular; D004198:Disease Susceptibility; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D005826:Genetics, Medical / Q000639:trends*; D006801:Humans; D008967:Molecular Biology / Q000639:trends*; D009154:Mutation / Q000235:genetics*; D011296:Prenatal Diagnosis / Q000379:methods*
chemical_list: D005819:Genetic Markers