title: Prenatal exclusion of Norrie's disease.
abstract: We report on the use of DNA marker probes and linkage analysis to exclude Norrie's disease in the male fetus of a high risk carrier. There are no clinical markers in females carrying the Norrie's disease gene; thus DNA linkage analysis is an essential technique in the management of families 'at-risk' for this severe ophthalmic disease. The principles of DNA linkage are discussed.
authors.affiliation: Department of Ophthalmology, Queen's University, Belfast.
authors.forename: R M
authors.initials: RM
authors.lastname: Redmond
authors.forename: C A
authors.initials: CA
authors.lastname: Graham
authors.forename: E D
authors.initials: ED
authors.lastname: Kelly
authors.forename: M
authors.initials: M
authors.lastname: Coleman
authors.forename: N C
authors.initials: NC
authors.lastname: Nevin
mesh_terms: D001766:Blindness / Q000175:diagnosis* / Q000235:genetics; D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics; D015342:DNA Probes; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D008040:Genetic Linkage; D005819:Genetic Markers; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
chemical_list: D015342:DNA Probes; D005819:Genetic Markers; D004247:DNA