title: Linkage analysis in X-linked congenital stationary night blindness.
abstract: X-linked congenital stationary night blindness (XL-CSNB) is a nonprogressive disorder of the retina, characterized by night blindness, reduced visual acuity, and myopia. Previous studies have localized the CSNB1 locus to the region between OTC and TIMP on the short arm of the X chromosome. We have carried out linkage studies in three XL-CSNB families that could not be classified as either complete or incomplete CSNB on the criteria suggested by Miyake et al. (1986. Arch. Ophthalmol. 104: 1013-1020). We used markers for the DXS538, DMD, OTC, MAOA, DXS426, and TIMP loci. Two-point analyses show that there is close linkage between CSNB and MAOA (theta max = 0.05, Zmax = 3.39), DXS426 (theta max = 0.06, Zmax = 2.42), and TIMP (theta max = 0.07, Zmax = 2.04). Two multiply informative crossovers are consistent with CSNB lying proximal to MAOA and distal to DXS426, respectively. Multipoint analysis supports this localization, giving the most likely order as DMD-17 cM-MAOA-7.5 cM-CSNB-7.5 cM-DXS426/TIMP-cen, and thus refines the localization of CSNB.
authors.affiliation: MRC Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom.
authors.forename: M A
authors.initials: MA
authors.lastname: Aldred
authors.forename: K L
authors.initials: KL
authors.lastname: Dry
authors.forename: D M
authors.initials: DM
authors.lastname: Sharp
authors.forename: D B
authors.initials: DB
authors.lastname: Van Dorp
authors.forename: J
authors.initials: J
authors.lastname: Brown
authors.forename: L J
authors.initials: LJ
authors.lastname: Hardwick
authors.forename: D H
authors.initials: DH
authors.lastname: Lester
authors.forename: F E
authors.initials: FE
authors.lastname: Pryde
authors.forename: P W
authors.initials: PW
authors.lastname: Teague
authors.forename: M
authors.initials: M
authors.lastname: Jay
mesh_terms: D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D008297:Male; D009755:Night Blindness / Q000151:congenital / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D014960:X Chromosome
chemical_list: D005819:Genetic Markers