title: Long-range mapping in the research and diagnosis of genetic disease.
abstract: This paper reviews current genetic and molecular biological methods that may be used in the so-called "reverse genetics" approach. These methods are the mapping, isolation, and study of the chromosomal DNA containing a previously unidentified gene responsible for a genetic disease, beginning with its chromosomal localization. In principle, the reverse genetics methodology follows the same path for different diseases studied. An overall outline of the steps to be undertaken is given and discussed. Several stages are illustrated with reference to current research in the fields of Duchenne muscular dystrophy, Huntington's disease, and polycystic kidney disease.
authors.affiliation: Department of Human Genetics, Sylvius Laboratory, University of Leiden, The Netherlands.
authors.forename: G J
authors.initials: GJ
authors.lastname: van Ommen
authors.forename: P L
authors.initials: PL
authors.lastname: Pearson
mesh_terms: D002874:Chromosome Mapping; D003001:Cloning, Molecular; D015342:DNA Probes; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000235:genetics*; D005819:Genetic Markers; D015894:Genome, Human; D006801:Humans; D012150:Polymorphism, Restriction Fragment Length; D015183:Restriction Mapping
chemical_list: D015342:DNA Probes; D005819:Genetic Markers