title: Mapping of locus for X-linked congenital stationary night blindness (CSNB1) proximal to DXS7.
abstract: A recombinant chromosome in a male affected with X-linked congenital stationary night blindness (CSNB1) provides new information on the location of the CSNB1 locus. A four-generation family with five males affected with X-linked CSNB was analyzed with five polymorphic markers for four X-chromosome loci spanning the region OTC (Xp21.1) to DXS255 (Xp11.22). Four of the males inherited the same X chromosome; one male inherited a chromosome that from OTC to DXS7, inclusive, was derived from the normal X chromosome of his unaffected grandfather and that from a location between DXS7 and DXS426 proximally was derived from the chromosome carrying the CSNB1 locus. This recombinant maps the CSNB1 locus in this family to a region on the short arm of the X chromosome proximal to the DXS7 locus.
authors.affiliation: Department of Paediatrics, Alberta Children's Hospital, Calgary, Canada.
authors.forename: N T
authors.initials: NT
authors.lastname: Bech-Hansen
authors.forename: B J
authors.initials: BJ
authors.lastname: Moore
authors.forename: W G
authors.initials: WG
authors.lastname: Pearce
mesh_terms: D000483:Alleles; D002874:Chromosome Mapping; D005260:Female; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D008297:Male; D009755:Night Blindness / Q000235:genetics*; D010375:Pedigree; D014960:X Chromosome