Abstract | PURPOSE: METHODS: Haplotype analysis of a family diagnosed with CSNBX was performed with 17 polymorphic markers on proximal Xp covering previously identified loci for CSNBX and XLRP. Two-point and multipoint lod scores were calculated. RESULTS: Informative recombinations in this family define a locus for CSNBX (CSNB4) with flanking markers DXS556 and DXS8080 on Xp11.4 to Xp11.3, an interval spanning approximately 5 to 6 cM. A maximum lod score of 3.2 was calculated for the locus order DXS556-1 cM-(CSNB4-DXS993)-2 cM-DXS1201. CONCLUSIONS: The results describe a new localization for CSNBX (CSNB4) between the RP2 and RP3 loci on proximal Xp. CSNB4 is not allelic with any previously reported XLRP loci; however, the interval overlaps the locus reported to contain the cone dystrophy (COD1) gene, and both diseases are nonrecombinant with DXS993. Because mutations in the RPGR gene to date account for disease in only a small proportion of RP3 families, the possibility that this new locus (CSNB4) also segregates with an as yet unidentified XLRP locus cannot be excluded.
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Authors | A J Hardcastle, Z K David-Gray, M Jay, A C Bird, S S Bhattacharya |
Journal | Investigative ophthalmology & visual science
(Invest Ophthalmol Vis Sci)
Vol. 38
Issue 13
Pg. 2750-5
(Dec 1997)
ISSN: 0146-0404 [Print] United States |
PMID | 9418727
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Eye Proteins
- Intracellular Signaling Peptides and Proteins
- Membrane Proteins
- Proteins
- RP2 protein, human
- RPGR protein, human
- DNA
- GTP-Binding Proteins
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Topics |
- Chromosome Mapping
- DNA
(analysis)
- Eye Proteins
(genetics)
- GTP-Binding Proteins
- Genetic Linkage
(genetics)
- Haplotypes
- Humans
- Intracellular Signaling Peptides and Proteins
- Lod Score
- Male
- Membrane Proteins
- Night Blindness
(congenital, genetics)
- Pedigree
- Proteins
(genetics)
- Retinitis Pigmentosa
(genetics)
- X Chromosome
(genetics)
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