Autosomal recessive retinitis pigmentosa locusRP28 maps between D2S1337 and D2S286 on chromosome 2p11-p15 in an Indian family
- aInstitut für Humangenetik, Universitäts-Klinikum Hamburg-Eppendorf, Butenfeld 42, D-22529 Hamburg, Germany, bSankara Nethralaya, Medical Research Foundation, 18 College Road, University of Madras, Chennai 600 113, India, cDepartment of Genetics, Taramani, University of Madras, Chennai 600 113, India, dDepartment of Biochemistry, University of Otago, Box 56, Dunedin, New Zealand
- Professor Gal.
- Revised 23 April 1999
- Accepted 13 May 1999
Abstract
Retinitis pigmentosa (RP) is a group of clinically and genetically heterogeneous disorders characterised by night blindness, constriction of visual field, and dystrophic changes of the retina. Previous genetic studies have shown extensive allelic and non-allelic genetic heterogeneity of RP. Here we describe an Indian family with multiple consanguineous marriages and a total of four patients with autosomal recessive (AR) RP. The homozygosity mapping strategy was successfully used and indicated close linkage between the disease locus and D2S380, D2S441, D2S291, and D2S1394 with maximum lod scores between 1.51-3.07 at θ=0.00. The analysis of multiply informative meioses maps the locus (RP28) for ARRP in this family between D1S1337 and D2S286 on 2p11-p15. The involvement of visinin (VSNL1), a promising candidate gene assigned to chromosome 2p by previous studies, has been excluded by the absence of linkage.
