PMID: 9418727Jan 7, 1998Paper

Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp

Investigative Ophthalmology & Visual Science
A J HardcastleS S Bhattacharya

Abstract

Proximal Xp harbors many inherited retinal disorders, including retinitis pigmentosa (RP) and congenital stationary night blindness, both of which display genetic heterogeneity. X-linked congenital stationary night blindness (CSNBX) is a nonprogressive disease causing night blindness and reduced visual acuity. Distinct genetic loci have been reported for CSNBX at Xp21.1, which is potentially allelic with the RP3 gene, and at Xp11.23, which is potentially allelic with the RP2 gene. The study to identify the RP2 gene led to an extended study of families with potentially allelic diseases that include CSNBX. 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. 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. The results describe a new localization for CSNBX (CSNB4) between the RP2 and RP3 loci on proximal Xp. CSNB4 is not allelic with an...Continue Reading

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