title: A locus for X-linked congenital stationary night blindness is located on the proximal portion of the short arm of the X chromosome.
abstract: Linkage between X-linked congenital stationary night blindness (CSNB1) and seven markers on the X chromosome was investigated in a large four-generation Albertan kindred. We detected significant linkage between the CSNB1 locus and the locus DXS255 (maximum lod score = 6.73 at a recombination fraction of 6%; confidence interval of 1% to 18%), which anchors the CSNB1 locus to the proximal region near p11.22 on the short arm of the X chromosome.
authors.affiliation: Alberta Children's Hospital Research Center, Calgary, Canada.
authors.forename: N T
authors.initials: NT
authors.lastname: Bech-Hansen
authors.forename: L L
authors.initials: LL
authors.lastname: Field
authors.forename: A M
authors.initials: AM
authors.lastname: Schramm
authors.forename: M
authors.initials: M
authors.lastname: Reedyk
authors.forename: I W
authors.initials: IW
authors.lastname: Craig
authors.forename: N J
authors.initials: NJ
authors.lastname: Fraser
authors.forename: W G
authors.initials: WG
authors.lastname: Pearce
mesh_terms: D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D009755:Night Blindness / Q000151:congenital / Q000235:genetics*; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011995:Recombination, Genetic; D015183:Restriction Mapping; D014960:X Chromosome
chemical_list: D005819:Genetic Markers