title: DNA analysis and recombination in X-linked retinitis pigmentosa.
abstract: X-linked retinitis pigmentosa is a hereditary retinal degenerative disorder which has been localised to the proximal short arm of the X chromosome. Recent evidence suggests that the disorder is heterogeneous with two possible loci for the disease mutation. DNA analysis on the family presented in this paper showed that the mutation mapped to the more telomeric locus (RP3), thus enabling two flanking polymorphic DNA probes (XJ1.1 and M27 beta) to be used for the detection of female carriers in the family. In none of the carriers was a tapetal reflex (metallic sheen) observed.
authors.affiliation: Queen's University Department Ophthalmology, Belfast.
authors.forename: R M
authors.initials: RM
authors.lastname: Redmond
authors.forename: C A
authors.initials: CA
authors.lastname: Graham
authors.forename: I W
authors.initials: IW
authors.lastname: Craig
authors.forename: N C
authors.initials: NC
authors.lastname: Nevin
authors.forename: D B
authors.initials: DB
authors.lastname: Archer
mesh_terms: D000328:Adult; D000483:Alleles; D002874:Chromosome Mapping; D004247:DNA / Q000032:analysis*; D015342:DNA Probes; D005260:Female; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011995:Recombination, Genetic; D012174:Retinitis Pigmentosa / Q000235:genetics*; D014960:X Chromosome
chemical_list: D015342:DNA Probes; D004247:DNA