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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Berger, W., van Duijnhoven, G., Pinckers, A. et al. Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB). Hum Genet 95, 67–70 (1995). https://doi.org/10.1007/BF00225077
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DOI: https://doi.org/10.1007/BF00225077