Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB) |
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Authors: | Wolfgang Berger Gerard van Duijnhoven Alfred Pinckers Arie Smits Hans-Hilger Ropers Frans Cremers |
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Institution: | (1) Department of Human Genetics, University Hospital Nijmegen, P.O.Box 9101, 6500HB Nijmegen, The Netherlands;(2) Department of Ophthalmology, University Hospital Nijmegen, P.O.Box 9101, 6500HB Nijmegen, The Netherlands |
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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. |
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