title: Gene mapping of ocular diseases.
abstract: Increasing awareness of the role of genetic factors in the causation of many human eye diseases has made ocular genetics one of the fastest growing areas of ophthalmology. The objective of this paper is to present the basic principles of gene mapping and their application to ophthalmology. The techniques used to map the genome are reviewed with emphasis placed on molecular genetics. The advances in this area have already provided the major impetus to the areas of diagnosis and prevention of some genetic eye disorders. Tables are presented that list the autosomal, X-linked and mitochondrial assignment of eye genes and disorders with ocular involvement.
authors.affiliation: Hospital for Sick Children, Department of Ophthalmology, Toronto, Ontario, Canada.
authors.forename: M A
authors.initials: MA
authors.lastname: Musarella
mesh_terms: D001483:Base Sequence; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002874:Chromosome Mapping / Q000379:methods*; D003001:Cloning, Molecular / Q000379:methods; D004247:DNA / Q000032:analysis; D004272:DNA, Mitochondrial / Q000235:genetics; D005128:Eye Diseases / Q000175:diagnosis / Q000235:genetics*; D008040:Genetic Linkage / Q000235:genetics; D015316:Genetic Therapy; D015894:Genome, Human; D006801:Humans; D008969:Molecular Sequence Data; D010375:Pedigree; D014960:X Chromosome
chemical_list: D004272:DNA, Mitochondrial; D004247:DNA