title: Ectopic (illegitimate) transcription: new possibilities for the analysis and diagnosis of human genetic disease.
abstract: By means of the Polymerase Chain Reaction (PCR), 'ectopic' or 'illegitimate' transcripts from any gene may be amplified from any tissue or cell type. RNA transcript analysis is therefore no longer dependent upon possession of the often inaccessible 'expressing' tissue. We review here the applications of ectopic transcript analysis to mutation detection and characterization, analysis of RNA splicing and the study of the genotype-phenotype relationship.
authors.affiliation: Charter Molecular Genetics Laboratory, Thrombosis Research Institute, London, U.K.
authors.forename: D N
authors.initials: DN
authors.lastname: Cooper
authors.forename: L P
authors.initials: LP
authors.lastname: Berg
authors.forename: V V
authors.initials: VV
authors.lastname: Kakkar
authors.forename: J
authors.initials: J
authors.lastname: Reiss
mesh_terms: D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000235:genetics*; D005838:Genotype; D006801:Humans; D009154:Mutation; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012326:RNA Splicing; D014158:Transcription, Genetic / Q000502:physiology*