PMID: 7581389Aug 1, 1995Paper

An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q

Human Molecular Genetics
S BardienS S Bhattacharya

Abstract

Retinitis pigmentosa is one of the most common causes of severe visual handicap in middle to late life. Prior to this report, seven loci had previously been mapped for the autosomal dominant form of this disorder (adRP). We now report the identification of a novel adRP locus on chromosome 17q. To map the new locus, we performed linkage analysis with microsatellite markers in a large South African kindred. After exclusion of 13 RP candidate gene loci (including rhodopsin and peripherin-RDS), we obtained significant positive lod scores at zero recombination fraction (theta = 0) for D17S808 (Z = 4.63) and D17S807 (Z = 5.69). Multipoint analysis gave a maximum lod score of 8.28 between these two markers. From haplotype analysis, the disease locus lies in the interval between markers D17S809 and D17S942. Three candidate genes for retinal dystrophies map to this chromosomal region and these genes are currently being investigated for possible involvement with adRP in this family.

Citations

Feb 20, 1999·Survey of Ophthalmology·S van SoestA A Bergen
Jun 18, 1999·Matrix Biology : Journal of the International Society for Matrix Biology·X WangH Kuivaniemi
Sep 1, 1996·Molecular Medicine Today·L S Sullivan, S P Daiger
Oct 17, 1998·Eye·C F Inglehearn
Sep 2, 2005·The Journal of Heredity·J Aguirre-Hernández, D R Sargan
Jun 1, 1996·Journal of Medical Genetics·E E TarttelinC F Inglehearn
Apr 18, 1998·Proceedings of the National Academy of Sciences of the United States of America·G M AclandG D Aguirre
Apr 20, 2004·Proceedings of the National Academy of Sciences of the United States of America·George RebelloWilliam S Sly
May 20, 1998·Ophthalmic Genetics·I M MacDonaldM A Musarella

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