title: Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB).
abstract: Linkage analysis has been performed in a large Dutch pedigree with X-linked recessive congenital stationary night blindness (CSNB) by utilizing 16 DNA markers from the proximal short arm of the human X chromosome (Xp21.1-11.2). Thirteen polymorphic markers are at least partially informative and have enabled pairwise and multipoint linkage analysis. For three loci, i.e. DXS228, the monoamine oxidase B gene and the Norrie disease gene (NDG), multipoint linkage studies have yielded maximum lod scores of > 3.0 at a recombination fraction of zero. Analysis of recombination events has enabled us to rule out the possibility that the underlying defect in this family is allelic to RP3; the gene defect could also be excluded from the proximal part of the region known to carry RP2. Linkage data are consistent with a possible involvement of the NDG but mutations in the open reading frame of this gene have not been found.
authors: Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
authors: W
authors: W
authors: Berger
authors: G
authors: G
authors: van Duijnhoven
authors: A
authors: A
authors: Pinckers
authors: A
authors: A
authors: Smits
authors: H H
authors: HH
authors: Ropers
authors: F
authors: F
authors: Cremers
mesh_terms: D002874:Chromosome Mapping; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics; D009426:Netherlands; D009755:Night Blindness / Q000151:congenital / Q000235:genetics*; D010375:Pedigree; D014960:X Chromosome
chemical_list: D005136:Eye Proteins; D005819:Genetic Markers; C081848:NDP protein, human; D009419:Nerve Tissue Proteins