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: W Berger, G van Duijnhoven, A Pinckers, A Smits, H H Ropers, F Cremers
• Journal: Human genetics (Hum Genet) Vol. 95 Issue 1 Pg. 67-70 (Jan 1995) ISSN: 0340-6717 [Print] Germany
• PMID: 7814029 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Eye Proteins
• Genetic Markers
• NDP protein, human
• Nerve Tissue Proteins

Topics

• Chromosome Mapping
• Eye Proteins (genetics)
• Female
• Genes, Recessive
• Genetic Linkage
• Genetic Markers
• Humans
• Male
• Nerve Tissue Proteins (genetics)
• Netherlands
• Night Blindness (congenital, genetics)
• Pedigree
• X Chromosome