title: Linkage of X-linked retinitis pigmentosa to the hypervariable DNA marker M27 beta (DXS255).
abstract: A hypervariable DNA marker is closely linked to one of the most severe forms of night blindness, X-linked retinitis pigmentosa (RP). Affected individuals with X-linked RP, obligate carriers, and ophthalmologically identifiable carriers of the disease were included in a linkage study. The diagnosis was established in five sibships by funduscopic and electrophysiological investigations. When the X-linked probe M27 beta was used, 2 recombinants out of 29 informative meioses were detected (theta = 0.07 at a maximum lod of 4.75). The hypervariable probe detected two different alleles in 38 of 39 females tested. M27 beta is therefore a potentially very useful probe for carrier detection and prenatal diagnosis, as well as for addressing the question of heterogeneity of X-linked RP.
authors.affiliation: Genetics Laboratory, Department of Biochemistry, University of Oxford, UK.
authors.forename: T
authors.initials: T
authors.lastname: Meitinger
authors.forename: N A
authors.initials: NA
authors.lastname: Fraser
authors.forename: B
authors.initials: B
authors.lastname: Lorenz
authors.forename: E
authors.initials: E
authors.lastname: Zrenner
authors.forename: J
authors.initials: J
authors.lastname: Murken
authors.forename: I W
authors.initials: IW
authors.lastname: Craig
mesh_terms: D005260:Female; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics*; D014960:X Chromosome
chemical_list: D005819:Genetic Markers